Infantile hypertrophic pyloric stenosis—genetics and syndromes (original) (raw)

• Wyllie, R. in Nelson Textbook of Pediatrics (eds Kliegman, R. M., Behrman, R. E., Jenson, H. B. & Stanton, B. F.) 1555–1558 (Saunders Elsevier, Philadelphia, 2007).
  Google Scholar
• Applegate, M. S. & Druschel, C. M. The epidemiology of infantile hypertrophic pyloric stenosis in New York State, 1983 to 1990. Arch. Pediatr. Adolesc. Med. 149, 1123–1129 (1995).
  Article CAS PubMed Google Scholar
• Hedback, G., Abrahamsson, K., Husberg, B., Granholm, T. & Oden, A. The epidemiology of infantile hypertrophic pyloric stenosis in Sweden 1987–96. Arch. Dis. Child. 85, 379–381 (2001).
  Article CAS PubMed PubMed Central Google Scholar
• Nielsen, J. P., Haahr, P. & Haahr, J. Infantile hypertrophic pyloric stenosis. Decreasing incidence. Dan. Med. Bull. 47, 223–225 (2000).
  CAS PubMed Google Scholar
• Persson, S., Ekbom, A., Granath, F. & Nordenskjold, A. Parallel incidences of sudden infant death syndrome and infantile hypertrophic pyloric stenosis: a common cause? Pediatrics 108, E70 (2001).
  Article CAS PubMed Google Scholar
• Sommerfield, T. et al. The changing epidemiology of infantile hypertrophic pyloric stenosis in Scotland. Arch. Dis. Child. 93, 1007–1011 (2008).
  Article CAS PubMed Google Scholar
• MacMahon, B. The continuing enigma of pyloric stenosis of infancy: a review. Epidemiology 17, 195–201 (2006).
  Article PubMed Google Scholar
• Chung, E. et al. Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region. J. Med. Genet. 30, 393–395 (1993).
  Article CAS PubMed PubMed Central Google Scholar
• Chung, E. et al. Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. Am. J. Hum. Genet. 58, 363–370 (1996).
  CAS PubMed PubMed Central Google Scholar
• Soderhall, C. & Nordenskjold, A. Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. Clin. Genet. 53, 421–422 (1998).
  Article CAS PubMed Google Scholar
• Capon, F., Reece, A., Ravindrarajah, R. & Chung, E. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 79, 378–382 (2006).
  Article CAS PubMed PubMed Central Google Scholar
• Everett, K. V. et al. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur. J. Hum. Genet. 16, 1151–1154 (2008).
  Article CAS PubMed Google Scholar
• Everett, K. V. et al. Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am. J. Hum. Genet. 82, 756–762 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Svenningsson, A. et al. Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci. J. Hum. Genet. 57, 115–121 (2012).
  Article CAS PubMed Google Scholar
• Krogh, C. et al. Testosterone levels in umbilical-cord blood and risk of pyloric stenosis. Pediatrics 127, e197–e201 (2011).
  Article PubMed Google Scholar
• Ranells, J. D., Carver, J. D. & Kirby, R. S. Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update. Adv. Pediatr. 58, 195–206 (2011).
  Article PubMed Google Scholar
• Sorensen, H. T., Norgard, B., Pedersen, L., Larsen, H. & Johnsen, S. P. Maternal smoking and risk of hypertrophic infantile pyloric stenosis: 10 year population based cohort study. BMJ 325, 1011–1012 (2002).
  Article PubMed PubMed Central Google Scholar
• Dehaene, P. Fetal alcohol syndrome and pyloric stenosis [French]. Arch. Pediatr. 6, 106 (1999).
  Article CAS PubMed Google Scholar
• Lodha, A. K., Satodia, P. & Whyte, H. Fetal alcohol syndrome and pyloric stenosis: alcohol induced or an association? J. Perinat. Med. 33, 262–263 (2005).
  Article PubMed Google Scholar
• Cooper, W. O., Ray, W. A. & Griffin, M. R. Prenatal prescription of macrolide antibiotics and infantile hypertrophic pyloric stenosis. Obstet. Gynecol. 100, 101–106 (2002).
  PubMed Google Scholar
• Rogers, I. M. The true cause of pyloric stenosis is hyperacidity. Acta Paediatr. 95, 132–136 (2006).
  Article PubMed Google Scholar
• Honein, M. A. et al. Infantile hypertrophic pyloric stenosis after pertussis prophylaxis with erythromcyin: a case review and cohort study. Lancet 354, 2101–2105 (1999).
  Article CAS PubMed Google Scholar
• Cooper, W. O. et al. Very early exposure to erythromycin and infantile hypertrophic pyloric stenosis. Arch. Pediatr. Adolesc. Med. 156, 647–650 (2002).
  Article PubMed Google Scholar
• Mahon, B. E., Rosenman, M. B. & Kleiman, M. B. Maternal and infant use of erythromycin and other macrolide antibiotics as risk factors for infantile hypertrophic pyloric stenosis. J. Pediatr. 139, 380–384 (2001).
  Article CAS PubMed Google Scholar
• Pedersen, R. N., Garne, E., Loane, M., Korsholm, L. & Husby, S. Infantile hypertrophic pyloric stenosis: a comparative study of incidence and other epidemiological characteristics in seven European regions. J. Matern. Fetal Neonatal Med. 21, 599–604 (2008).
  Article PubMed Google Scholar
• Schechter, R., Torfs, C. P. & Bateson, T. F. The epidemiology of infantile hypertrophic pyloric stenosis. Paediatr. Perinat. Epidemiol. 11, 407–427 (1997).
  Article CAS PubMed Google Scholar
• Rasmussen, L., Green, A. & Hansen, L. P. The epidemiology of infantile hypertrophic pyloric stenosis in a Danish population, 1950–84. Int. J. Epidemiol. 18, 413–417 (1989).
  Article CAS PubMed Google Scholar
• Dahshan, A. et al. Helicobacter pylori and infantile hypertrophic pyloric stenosis: is there a possible relationship? J. Pediatr. Gastroenterol. Nutr. 42, 262–264 (2006).
  Article PubMed Google Scholar
• Sherwood, W., Choudhry, M. & Lakhoo, K. Infantile hypertrophic pyloric stenosis: an infectious cause? Pediatr. Surg. Int. 23, 61–63 (2007).
  Article CAS PubMed Google Scholar
• Burton, P. R., Tobin, M. D. & Hopper, J. L. Key concepts in genetic epidemiology. Lancet 366, 941–951 (2005).
  Article PubMed Google Scholar
• MacMahon, B. & McKeown, T. Infantile hypertrophic pyloric stenosis: data on 81 pairs of twins. Acta Gerontol. (Milano.) 4, 320–329 (1955).
  CAS Google Scholar
• Carter, C. O. & Evans, K. A. Inheritance of congenital pyloric stenosis. J. Med. Genet. 6, 233–254 (1969).
  Article CAS PubMed PubMed Central Google Scholar
• Velaoras, K., Bitsori, M., Galanakis, E. & Charissis, G. Hypertrophic pyloric stenosis in twins: same genes or same environments? Pediatr. Surg. Int. 21, 669–671 (2005).
  Article CAS PubMed Google Scholar
• Carter, C. O. The inheritance of congenital pyloric stenosis. Br. Med. Bull. 17, 251–254 (1961).
  Article CAS PubMed Google Scholar
• Kidd, K. K. & Spence, M. A. Genetic analyses of pyloric stenosis suggesting a specific maternal effect. J. Med. Genet. 13, 290–294 (1976).
  Article CAS PubMed PubMed Central Google Scholar
• Lalouel, J. M., Morton, N. E., MacLean, C. J. & Jackson, J. Recurrence risks in complex inheritance with special regard to pyloric stenosis. J. Med. Genet. 14, 408–414 (1977).
  Article CAS PubMed PubMed Central Google Scholar
• Mitchell, L. E. & Risch, N. The genetics of infantile hypertrophic pyloric stenosis. A reanalysis. Am. J. Dis. Child. 147, 1203–1211 (1993).
  Article CAS PubMed Google Scholar
• Krogh, C. et al. Familial aggregation and heritability of pyloric stenosis. JAMA 303, 2393–2399 (2010).
  Article CAS PubMed Google Scholar
• Yamamoto, Y. et al. Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis. Am. J. Med. Genet. 31, 379–384 (1988).
  Article CAS PubMed Google Scholar
• Chung, E. et al. Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region. J. Med. Genet. 30, 393–395 (1993).
  Article CAS PubMed PubMed Central Google Scholar
• Vanderwinden, J. M., Mailleux, P., Schiffmann, S. N., Vanderhaeghen, J. J. & De Laet, M. H. Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. N. Engl. J. Med. 327, 511–515 (1992).
  Article CAS PubMed Google Scholar
• Takahashi, T. Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract. J. Gastroenterol. 38, 421–430 (2003).
  Article CAS PubMed Google Scholar
• Everett, K. V. et al. Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing. Hum. Genet. 126, 819–831 (2009).
  Article CAS PubMed Google Scholar
• Ju, J. J. et al. No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people. Pediatr. Surg. Int. 27, 1267–1270 (2011).
  Article PubMed Google Scholar
• Feenstra, B. et al. Common variants near MBNL1 and NKX2–5 are associated with infantile hypertrophic pyloric stenosis. Nat. Genet. 44, 334–337 (2012).
  Article CAS PubMed PubMed Central Google Scholar
• Kusafuka, T. & Puri, P. Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. Pediatr. Surg. Int. 12, 576–579 (1997).
  Article CAS PubMed Google Scholar
• Saur, D. et al. Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. Proc. Natl Acad. Sci. USA 101, 1662–1667 (2004).
  Article CAS PubMed PubMed Central Google Scholar
• Lagerstedt-Robinson, K., Svenningsson, A. & Nordenskjold, A. No association between a promoter NOS1 polymorphism (rs41279104) and infantile hypertrophic pyloric stenosis. J. Hum. Genet. 54, 706–708 (2009).
  Article CAS PubMed Google Scholar
• Miao, X. et al. Lack of association between nNOS–84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population. J. Pediatr. Surg. 45, 709–713 (2010).
  Article PubMed Google Scholar
• Serra, A., Schuchardt, K., Genuneit, J., Leriche, C. & Fitze, G. Genomic variants in the coding region of neuronal nitric oxide synthase (NOS1) in infantile hypertrophic pyloric stenosis. J. Pediatr. Surg. 46, 1903–1908 (2011).
  Article PubMed Google Scholar
• Svenningsson, A., Lagerstedt, K., Omrani, M. D. & Nordenskjold, A. Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis. J. Pediatr. Surg. 43, 443–446 (2008).
  Article PubMed Google Scholar
• Serra, A. et al. The role of RET genomic variants in infantile hypertrophic pyloric stenosis. Eur. J. Pediatr. Surg. 21, 389–394 (2011).
  Article CAS PubMed Google Scholar
• Guarino, N., Shima, H. & Puri, P. Structural immaturity of the pylorus muscle in infantile hypertrophic pyloric stenosis. Pediatr. Surg. Int. 16, 282–284 (2000).
  Article CAS PubMed Google Scholar
• Kobayashi, H., O'Briain, D. S. & Puri, P. Immunochemical characterization of neural cell adhesion molecule (NCAM), nitric oxide synthase, and neurofilament protein expression in pyloric muscle of patients with pyloric stenosis. J. Pediatr. Gastroenterol. Nutr. 20, 319–325 (1995).
  Article CAS PubMed Google Scholar
• Piotrowska, A. P., Solari, V. & Puri, P. Distribution of heme oxygenase-2 in nerves and interstitial cells of Cajal in the normal pylorus and in infantile hypertrophic pyloric stenosis. Arch. Pathol. Lab Med. 127, 1182–1186 (2003).
  PubMed Google Scholar
• Vanderwinden, J. M., Liu, H., De Laet, M. H. & Vanderhaeghen, J. J. Study of the interstitial cells of Cajal in infantile hypertrophic pyloric stenosis. Gastroenterology 111, 279–288 (1996).
  Article CAS PubMed Google Scholar
• Panteli, C. New insights into the pathogenesis of infantile pyloric stenosis. Pediatr. Surg. Int. 25, 1043–1052 (2009).
  Article PubMed Google Scholar
• Dodge, J. A. & Karim, A. A. Induction of pyloric hypertrophy by pentagastrin. An animal model for infantile hypertrophic pyloric stenosis. Gut 17, 280–284 (1976).
  Article CAS PubMed PubMed Central Google Scholar
• Dick, A. C., Ardill, J., Potts, S. R. & Dodge, J. A. Gastrin, somatostatin and infantile hypertrophic pyloric stenosis. Acta Paediatr. 90, 879–882 (2001).
  Article CAS PubMed Google Scholar
• Martinez-Urrutia, M. J., Lassaletta, L., Lama, R., Barrios, V. & Tovar, J. A. Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study. J. Pediatr. Surg. 30, 1443–1446 (1995).
  Article CAS PubMed Google Scholar
• Huang, P. L., Dawson, T. M., Bredt, D. S., Snyder, S. H. & Fishman, M. C. Targeted disruption of the neuronal nitric oxide synthase gene. Cell 75, 1273–1286 (1993).
  Article CAS PubMed Google Scholar
• Gyurko, R., Leupen, S. & Huang, P. L. Deletion of exon 6 of the neuronal nitric oxide synthase gene in mice results in hypogonadism and infertility. Endocrinology 143, 2767–2774 (2002).
  Article CAS PubMed Google Scholar
• Voelker, C. A. et al. Perinatal nitric oxide synthase inhibition retards neonatal growth by inducing hypertrophic pyloric stenosis in rats. Pediatr. Res. 38, 768–774 (1995).
  Article CAS PubMed Google Scholar
• Grisoni, E., Dusleag, D. & Super, D. Nitric oxide synthesis inhibition: the effect on rabbit pyloric muscle. J. Pediatr. Surg. 31, 800–804 (1996).
  Article CAS PubMed Google Scholar
• Barbosa, I. M., Ferrante, S. M. & Mandarim-De-Lacerda, C. A. Role of nitric oxide synthase in the etiopathogenesis of hypertrophic pyloric stenosis in infants [Portuguese]. J. Pediatr. (Rio J.) 77, 307–312 (2001).
  CAS Google Scholar
• Abel, R. M. et al. A histological study of the hph-1 mouse mutant: an animal model of phenylketonuria and infantile hypertrophic pyloric stenosis. Anat. Histol. Embryol. 33, 125–130 (2004).
  Article CAS PubMed Google Scholar
• Johnson, C. F., Koch, R., Peterson, R. M. & Friedman, E. G. Congenital and neurological abnormalities in infants with phenylketonuria. Am. J. Ment. Defic. 82, 375–379 (1978).
  CAS PubMed Google Scholar
• Sivarao, D. V., Mashimo, H. & Goyal, R. K. Pyloric sphincter dysfunction in nNOS-/- and W/Wv mutant mice: animal models of gastroparesis and duodenogastric reflux. Gastroenterology 135, 1258–1266 (2008).
  Article PubMed Google Scholar
• Wassif, C. A. et al. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome. Hum. Mol. Genet. 10, 555–564 (2001).
  Article CAS PubMed Google Scholar
• Kawauchi, S. et al. Multiple organ system defects and transcriptional dysregulation in the Nipbl+/− mouse, a model of Cornelia de Lange Syndrome. PLoS Genet. 5, e1000650 (2009).
  Article CAS PubMed PubMed Central Google Scholar
• Herman, G. E., Finegold, M., Zhao, W., de Gouyon, B. & Metzenberg, A. Medical complications in long-term survivors with X-linked myotubular myopathy. J. Pediatr. 134, 206–214 (1999).
  Article CAS PubMed Google Scholar
• Robb, S. A. et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul. Disord. 21, 379–386 (2011).
  Article PubMed Google Scholar
• Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P. & Wenstrup, R. J. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am. J. Med. Genet. 77, 31–37 (1998).
  Article CAS PubMed Google Scholar
• Zweers, M. C. et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am. J. Hum. Genet. 73, 214–217 (2003).
  Article CAS PubMed PubMed Central Google Scholar
• Narcisi, P., Richards, A. J., Ferguson, S. D. & Pope, F. M. A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Hum. Mol. Genet. 3, 1617–1620 (1994).
  Article CAS PubMed Google Scholar
• De Felice, C. et al. Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility. J. Pediatr. 138, 596–598 (2001).
  Article CAS PubMed Google Scholar
• Miyazaki, E., Yamataka, T., Ohshiro, K., Taira, Y. & Puri, P. Active collagen synthesis in infantile hypertrophic pyloric stenosis. Pediatr. Surg. Int. 13, 237–239 (1998).
  Article CAS PubMed Google Scholar
• Kelley, R. I. & Hennekam, R. C. The Smith-Lemli-Opitz syndrome. J. Med. Genet. 37, 321–335 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Tint, G. S. et al. Defective cholesterol biosynthesis associated with the Smith–Lemli–Opitz syndrome. N. Engl. J. Med. 330, 107–113 (1994).
  Article CAS PubMed Google Scholar
• Hennekam, R. C., Waterham, H. R., Wanders, R. J. & Aronson, D. C. No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis. Am. J. Med. Genet. 99, 256–257 (2001).
  Article CAS PubMed Google Scholar
• Nezelof, C., Jaubert, F. & Lyon, G. Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports [French]. Ann. Anat. Pathol. (Paris) 21, 401–412 (1976).
  CAS Google Scholar
• Barron, D. J. et al. Hypoplastic left heart syndrome. Lancet 374, 551–564 (2009).
  Article PubMed Google Scholar
• Dasgupta, C. et al. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat. Res. 479, 173–186 (2001).
  Article CAS PubMed Google Scholar
• Hardy, C. Pyloromyotomy in an infant with hypoplastic left heart syndrome status-post hybrid procedure: not just another case? Paediatr. Anaesth. 18, 993–994 (2008).
  Article PubMed Google Scholar
• Paznekas, W. A. et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am. J. Hum. Genet. 72, 408–418 (2003).
  Article CAS PubMed Google Scholar
• Trarbach, E. B. et al. Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. J. Clin. Endocrinol. Metab. 95, 3491–3496 (2010).
  Article CAS PubMed PubMed Central Google Scholar
• Franco, B. et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353, 529–536 (1991).
  Article CAS PubMed Google Scholar
• Baker, K. et al. Neocortical and hippocampal volume loss in a human ciliopathy: a quantitative MRI study in Bardet-Biedl syndrome. Am. J. Med. Genet. A 155A, 1–8 (2010).
  PubMed Google Scholar
• Weissortel, R., Strom, T. M., Dorr, H. G., Rauch, A. & Meitinger, T. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Clin. Genet. 54, 45–51 (1998).
  Article CAS PubMed Google Scholar
• Hennekam, R. C., Krantz, I. D. & Allanson, J. E. in Gorlin's Syndromes of the Head and Neck 428–434 (Oxford University Press, New York, 2010).
  Google Scholar
• Jackson, L., Kline, A. D., Barr, M. A. & Koch, S. de Lange syndrome: a clinical review of 310 individuals. Am. J. Med. Genet. 47, 940–946 (1993).
  Article CAS PubMed Google Scholar
• Krantz, I. D. et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36, 631–635 (2004).
  Article CAS PubMed PubMed Central Google Scholar
• Oliveira, J. et al. Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. Hum. Mutat. 31, 1216–1222 (2010).
  Article CAS PubMed Google Scholar
• Bingham, C. & Hattersley, A. T. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β. Nephrol. Dial. Transplant. 19, 2703–2708 (2004).
  Article CAS PubMed Google Scholar
• Bingham, C. et al. Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am. J. Hum. Genet. 68, 219–224 (2001).
  Article CAS PubMed Google Scholar
• Kaplan, B. S., Gordon, I., Pincott, J. & Barratt, T. M. Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. Am. J. Med. Genet. 34, 569–573 (1989).
  Article CAS PubMed Google Scholar
• Wang, D., Braendstrup, O., Larsen, S., Horn, T. & Strandgaard, S. The expression and activity of renal nitric oxide synthase and circulating nitric oxide in polycystic kidney disease rats. APMIS 112, 358–368 (2004).
  Article CAS PubMed Google Scholar
• Hennekam, R. C. Costello syndrome: an overview. Am. J. Med. Genet. C. Semin. Med. Genet. 117C, 42–48 (2003).
  Article PubMed Google Scholar
• Gripp, K. W. et al. Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype? Am. J. Med. Genet. A 146A, 683–690 (2008).
  Article CAS PubMed Google Scholar
• Blumenthal, O. Pyloristenosis caused by a neurofibroma in a case of Recklinghausen's disease. Chirurg 21, 313–314 (1950).
  CAS PubMed Google Scholar
• Alders, M. et al. Evaluation of clinical manifestiations in patients with severe lymphedema with and without CCBE1 mutations. Eur. J. Med. Genet. (in press).
• Alders, M. et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat. Genet. 41, 1272–1274 (2009).
  Article CAS PubMed Google Scholar
• Hogan, B. M. et al. Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. Nat. Genet. 41, 396–398 (2009).
  Article CAS PubMed Google Scholar
• Engels, H. et al. Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations. Am. J. Med. Genet. 111, 205–209 (2002).
  Article PubMed Google Scholar
• Scarcella, A., De Lucia, A., Pasquariello, M. B. & Gambardella, P. Early death in two sisters with Hennekam syndrome. Am. J. Med. Genet. 93, 181–183 (2000).
  Article CAS PubMed Google Scholar
• Fox, G. F., Challis, D., O'Brien, K. K., Kelly, E. N. & Ryan, G. Congenital chylothorax in siblings. Acta Paediatr. 87, 1010–1012 (1998).
  Article CAS PubMed Google Scholar
• Mangyanda, M. K. et al. Fetal alcohol syndrome and hypertrophic pyloric stenosis in two brothers [French]. Arch. Pediatr. 5, 695–696 (1998).
  Article CAS PubMed Google Scholar
• Schmickel, R. D. Contiguous gene syndromes: a component of recognizable syndromes. J. Pediatr. 109, 231–241 (1986).
  Article CAS PubMed Google Scholar
• Miller, D. T. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749–764 (2010).
  Article CAS PubMed PubMed Central Google Scholar
• Feenstra, B. et al. Common variants near MBNL1 and NKX2–5 are associated with infantile hypertrophic pyloric stenosis. Nat. Genet. 44, 334–337 (2012).
  Article CAS PubMed PubMed Central Google Scholar
• Xu, B. et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet. 43, 864–868 (2011).
  Article CAS PubMed PubMed Central Google Scholar
• Hennekam, R. C. Care for patients with ultra-rare disorders. Eur. J. Med. Genet. 54, 220–224 (2011).
  Article PubMed Google Scholar
• Kaati, G., Bygren, L. O. & Edvinsson, S. Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period. Eur. J. Hum. Genet. 10, 682–688 (2002).
  Article CAS PubMed Google Scholar
• Manolio, T. A. et al. Finding the missing heritability of complex diseases. Nature 461, 747–753 (2009).
  Article CAS PubMed PubMed Central Google Scholar
• Hennekam, R. C. & Biesecker, L. G. Next generation sequencing demands next generation phenotyping. Hum. Mutat. 33, 884–886 (2012).
  Article CAS PubMed PubMed Central Google Scholar
• Czeizel, A. & Tusnady, G. in Aetiologic studies of isolated common congenital abnormalities in Hungary 107–120 (Akademiai Kiado, Budapest, Hungary, 1984).
  Google Scholar
• Adelstein, P. & Fedrick, J. Pyloric stenosis in the Oxford Record Linkage Study area. J. Med. Genet. 13, 439–448 (1976).
  Article CAS PubMed PubMed Central Google Scholar
• Dodge, J. A. Infantile Hypertrophic Pyloric Stenosis. Thesis, University of Wales (1970).
  Google Scholar
• McKeown, T., MacMahon, B. & Record, R. G. The familial incidence of congenital pyloric stenosis. Ann. Eugen. 16, 260–281 (1951).
  Article CAS PubMed Google Scholar
• Everett, K. V. et al. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur. J. Hum. Genet. 16, 1151–1154 (2008).
  Article CAS PubMed Google Scholar
• Rajab, A., Heathcote, K., Joshi, S., Jeffery, S. & Patton, M. Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. Am. J. Med. Genet. 110, 219–225 (2002).
  Article PubMed Google Scholar
• Gossage, D., Perrin, J. M. & Butler, M. G. A 26-month-old child with Marden-Walker syndrome and pyloric stenosis. Am. J. Med. Genet. 26, 915–919 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• Ay, B., Gercek, A., Dogan, V. I., Kiyan, G. & Gogus, Y. F. Pyloromyotomy in a patient with paramyotonia congenita. Anesth. Analg. 98, 68–69 (2004).
  Article PubMed Google Scholar
• Blank, C. E. Apert's syndrome (a type of acrocephalosyndactyly)—observations on a British series of thirty-nine cases. Ann. Hum. Genet. 24, 151–164 (1960).
  Article CAS PubMed Google Scholar
• Beare, J. M., Dodge, J. A. & Nevin, N. C. Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. Br. J. Dermatol. 81, 241–247 (1969).
  Article CAS PubMed Google Scholar
• Mahan, J. D., Mauer, S. M., Sibley, R. K. & Vernier, R. L. Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation. J. Pediatr. 105, 549–557 (1984).
  Article CAS PubMed Google Scholar
• Hu, M. et al. A novel mutation of WT1 exon 9 in a patient with Denys–Drash syndrome and pyloric stenosis. Pediatr. Nephrol. 19, 1160–1163 (2004).
  Article PubMed Google Scholar
• Kuivaniemi, H. et al. Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. J. Biol. Chem. 265, 12067–12074 (1990).
  CAS PubMed Google Scholar
• Wilson, C., Aftimos, S., Pereira, A. & McKay, R. Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. Am. J. Med. Genet. 78, 286–290 (1998).
  Article CAS PubMed Google Scholar
• Keats, T. E., Smith, T. H. & Sweet, D. E. Craniofacial dysotosis with fibrous metaphyseal deffects. Am. J. Roentgenol. Radium. Ther. Nucl. Med. 124, 271–275 (1975).
  Article CAS PubMed Google Scholar
• Cohen, M. J. J. & Maclean, R. E. in Syndromes with craniosynostosis 309–441 (Oxford University Press, New York, 2000).
  Google Scholar
• Raymond, F. L. et al. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. Am. J. Hum. Genet. 80, 982–987 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Hennekam, R. C., Krantz, I. D. & Allanson, J. E. Gorlin's Syndromes of the Head and Neck (Oxford University Press, New York, 2010).
  Google Scholar
• Lin, D. S. et al. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. Am. J. Med. Genet. A 155A, 3095–3099 (2011).
  Article CAS PubMed Google Scholar
• Cooper, M. K. et al. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat. Genet. 33, 508–513 (2003).
  Article CAS PubMed Google Scholar
• Garcia Perez, A. & Crespo, M. X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. Clin. Exp. Dermatol. 6, 159–161 (1981).
  Article CAS PubMed Google Scholar
• Stoll, C., Grosshans, E., Binder, P. & Roth, M. P. Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers. Clin. Exp. Dermatol. 8, 61–64 (1983).
  Article CAS PubMed Google Scholar
• Bruno, L., Bocanegra, O. & Magnelli, N. Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence? Clin. Exp. Dermatol. 28, 74–76 (2003).
  Article CAS PubMed Google Scholar
• Grayer, J. Recognition of Zellweger syndrome in infancy. Adv. Neonatal Care 5, 5–13 (2005).
  Article PubMed Google Scholar
• Powers, J. M. The pathology of peroxisomal disorders with pathogenetic considerations. J. Neuropathol. Exp. Neurol. 54, 710–719 (1995).
  Article CAS PubMed Google Scholar
• Tanner, M. S., Smith, B. & Lloyd, J. K. Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. Arch. Dis. Child. 51, 837–841 (1976).
  Article CAS PubMed PubMed Central Google Scholar
• Auricchio, A. et al. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am. J. Hum. Genet. 58, 743–748 (1996).
  CAS PubMed PubMed Central Google Scholar
• Goldmuntz, E. et al. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am. J. Hum. Genet. 70, 776–780 (2002).
  Article CAS PubMed PubMed Central Google Scholar
• Battaglia, A., Chines, C. & Carey, J. C. The FG syndrome: report of a large Italian series. Am. J. Med. Genet. A 140, 2075–2079 (2006).
  Article CAS PubMed Google Scholar
• Rott, H. D., Krieg, P., Rutschle, H. & Kraus, C. Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). Genet. Couns. 14, 281–288 (2003).
  CAS PubMed Google Scholar
• Schinzel, A., Illig, R. & Prader, A. The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. Clin. Genet. 32, 160–168 (1987).
  Article CAS PubMed Google Scholar
• Tanner, M. S., Smith, B. & Lloyd, J. K. Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. Arch. Dis. Child. 51, 837–841 (1976).
  Article CAS PubMed PubMed Central Google Scholar
• Loh, J. P., Haller, J. O., Kassner, E. G., Aloni, A. & Glassberg, K. Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis. Pediatr. Radiol. 6, 27–31 (1977).
  Article CAS PubMed Google Scholar
• Balci, S. et al. Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. Clin. Genet. 39, 298–303 (1991).
  Article CAS PubMed Google Scholar
• Kaplan, B. S., Fay, J., Shah, V., Dillon, M. J. & Barratt, T. M. Autosomal recessive polycystic kidney disease. Pediatr. Nephrol. 3, 43–49 (1989).
  Article CAS PubMed Google Scholar
• Falk, R. E. & Casas, K. A. Chromosome 2q37 deletion: clinical and molecular aspects. Am. J. Med. Genet. C. Semin. Med. Genet. 145C, 357–371 (2007).
  Article PubMed Google Scholar
• Sherwood, M. C., Pincott, J. R., Goodwin, F. J. & Dillon, M. J. Dominantly inherited glomerulonephritis and an unusual skin disease. Arch. Dis. Child 62, 1278–1280 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• Forrester, S., Kovach, M. J., Reynolds, N. M., Urban, R. & Kimonis, V. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am. J. Med. Genet. 98, 92–100 (2001).
  Article CAS PubMed Google Scholar
• Hilhorst-Hofstee, Y. et al. Radial aplasia, poikiloderma and auto-immune enterocolitis–new syndrome or severe form of Rothmund-Thomson syndrome? Clin. Dysmorphol. 9, 79–85 (2000).
  Article CAS PubMed Google Scholar
• Konig, R., Fuchs, S., Kern, C. & Langenbeck, U. Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias. Am. J. Med. Genet. 38, 244–247 (1991).
  Article CAS PubMed Google Scholar
• Johnson, J. P. et al. Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J. Pediatr. 133, 441–448 (1998).
  Article CAS PubMed Google Scholar
• Barberia, L. E., Saavedra, O. D. & Maroto, E. M. Etiopathogenic analysis of the caries on three patients with Noonan Syndrome. Med. Oral 8, 136–142 (2003).
  Google Scholar
• Scarcella, A., De, L. A., Pasquariello, M. B. & Gambardella, P. Early death in two sisters with Hennekam syndrome. Am. J. Med. Genet. 93, 181–183 (2000).
  Article CAS PubMed Google Scholar
• Van Balkom, I. D. et al. Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am. J. Med. Genet. 112, 412–421 (2002).
  Article PubMed Google Scholar
• Pinter, R., Hogge, W. A. & McPherson, E. Infant with severe penicillamine embryopathy born to a woman with Wilson disease. Am. J. Med. Genet. A 128A, 294–298 (2004).
  Article CAS PubMed Google Scholar
• Alkuraya, F. S. Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis. Am. J. Med. Genet. A 155A, 297–300 (2010).
  PubMed Google Scholar
• Crow, Y. J. et al. A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features. Am. J. Med. Genet. A 140, 1131–1135 (2006).
  Article PubMed Google Scholar
• Suthers, G. K., Earley, A. E. & Huson, S. M. A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation. Clin. Dysmorphol. 2, 342–345 (1993).
  Article CAS PubMed Google Scholar
• Ayme, S. et al. Fryns syndrome: report on 8 new cases. Clin. Genet. 35, 191–201 (1989).
  Article CAS PubMed Google Scholar
• Harrod, M. J., Keele, D. K. & Howard, J. Sr. A syndrome of craniofacial, digital, and genital anomalies. Birth Defects Orig. Artic. Ser. 13, 111–115 (1977).
  CAS PubMed Google Scholar
• Jurenka, S. B. & Van Allen, M. I. Additional case of craniofacial and digital anomalies as reported by Harrod. et al. Am. J. Med. Genet. 61, 168–170 (1996).
  Article CAS PubMed Google Scholar
• Jurenka, S. B. & Evans, J. Kaufman oculocerebrofacial syndrome: case report. Am. J. Med. Genet. 3, 15–19 (1979).
  Article CAS PubMed Google Scholar
• Lowry, R. B. & MacLean, J. R. Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. Birth Defects Orig. Artic. Ser. 13, 203–228 (1977).
  CAS PubMed Google Scholar
• van de Kamp, J. M. et al. Bifurcation of the femur with tibial agenesis and additional anomalies. Am. J. Med. Genet. A 138, 45–50 (2005).
  Article CAS PubMed Google Scholar
• Toriello, H. V. et al. Toriello-Carey syndrome: delineation and review. Am. J. Med. Genet. A 123A, 84–90 (2003).
  Article PubMed Google Scholar
• Rabe, H. et al. Yunis-Varon syndrome: the first case of German origin. Clin. Dysmorphol. 5, 217–222 (1996).
  Article CAS PubMed Google Scholar
• Steinbach, P., Wolf, M. & Schmidt, H. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q. Am. J. Med. Genet. 19, 131–136 (1984).
  Article CAS PubMed Google Scholar
• Webb, A. L. et al. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat. Diagn. 16, 958–962 (1996).
  Article CAS PubMed Google Scholar
• Tyshchenko, N. et al. 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities. Eur. J. Med. Genet. 52, 128–130 (2009).
  Article PubMed Google Scholar
• Hodgson, S. V., Berry, A. C. & Dunbar, H. M. Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis. Clin. Genet. 48, 328–330 (1995).
  Article CAS PubMed Google Scholar
• Roos, A. et al. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH. Eur. J. Med. Genet. 49, 505–510 (2006).
  Article CAS PubMed Google Scholar
• Shokeir, M. H., Ray, M., Hamerton, J. L., Bauder, F. & O'Brien, H. Deletion of the short arm of chromosome no. 10. J. Med. Genet. 12, 99–103 (1975).
  Article CAS PubMed PubMed Central Google Scholar
• Favier, R. et al. Paris-Trousseau syndrome: clinical, hematological, molecular data of ten new cases. Thromb. Haemost. 90, 893–897 (2003).
  Article CAS PubMed Google Scholar
• Cekada, S. et al. Partial trisomy 13q22−>qter and monosomy 18q21−>qter as a result of familial translocation. Acta Paediatr. 88, 675–678 (1999).
  Article CAS PubMed Google Scholar
• Taylor, A. I. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J. Med. Genet. 5, 227–252 (1968).
  Article CAS PubMed PubMed Central Google Scholar
• Chen, C. P. et al. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am. J. Med. Genet. A 139A, 146–150 (2005).
  Article PubMed Google Scholar
• Rasmussen, N., Johnsen, N. J. & Thomsen, J. Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance. Acta Otolaryngol. 88, 296–302 (1979).
  Article CAS PubMed Google Scholar
• Callier, P. et al. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization. Am. J. Med. Genet. A 140A, 1859–1863 (2006).
  Article CAS PubMed Google Scholar
• Moore, S. W. Down syndrome and the enteric nervous system. Pediatr. Surg. Int. 24, 873–883 (2008).
  Article CAS PubMed Google Scholar
• Freeman, S. B. et al. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin. Genet. 75, 180–184 (2009).
  Article CAS PubMed Google Scholar
• Van der Horst, R., Frankel, J. & Grace, J. Congenital hypertrophic pyloric stenosis in phenotypic female twins with X-XX mosaicism. Arch. Dis. Child. 46, 554–556 (1971).
  Article CAS PubMed PubMed Central Google Scholar