Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? - PubMed (original) (raw)
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
J Zlotogora et al. J Med Genet. 1987 May.
Abstract
Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.
Similar articles
- Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
Yoshida K, Hayashi R, Fujita H, Kubota M, Kondo M, Shimomura Y, Niizeki H. Yoshida K, et al. J Dermatol. 2015 Jul;42(7):715-9. doi: 10.1111/1346-8138.12882. Epub 2015 Apr 24. J Dermatol. 2015. PMID: 25913853 - Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.
Bowen P, Armstrong HB. Bowen P, et al. Clin Genet. 1976 Jan;9(1):35-42. doi: 10.1111/j.1399-0004.1976.tb01547.x. Clin Genet. 1976. PMID: 174848 - Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.
Rodini ES, Richieri-Costa A. Rodini ES, et al. Am J Med Genet. 1990 Aug;36(4):473-6. doi: 10.1002/ajmg.1320360420. Am J Med Genet. 1990. PMID: 2167611 - Ectrodactyly, ectodermal dysplasia, and cleft lip syndrome. Case report.
Seno H, Yanai A, Sugino H, Inoue M, Takei T, Miyake I. Seno H, et al. Scand J Plast Reconstr Surg Hand Surg. 1996 Sep;30(3):227-30. doi: 10.3109/02844319609062820. Scand J Plast Reconstr Surg Hand Surg. 1996. PMID: 8885020 Review. - Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.
Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Guion-Almeida ML, et al. Clin Dysmorphol. 2000 Oct;9(4):269-72. doi: 10.1097/00019605-200009040-00007. Clin Dysmorphol. 2000. PMID: 11045583 Review.
Cited by
- Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation.
Goyal M, Pradhan G, Gupta S, Kapoor S. Goyal M, et al. Contemp Clin Dent. 2015 Jan-Mar;6(1):110-2. doi: 10.4103/0976-237X.149304. Contemp Clin Dent. 2015. PMID: 25684924 Free PMC article. - p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
Mollo MR, Antonini D, Mitchell K, Fortugno P, Costanzo A, Dixon J, Brancati F, Missero C. Mollo MR, et al. Exp Dermatol. 2015 Feb;24(2):114-9. doi: 10.1111/exd.12593. Exp Dermatol. 2015. PMID: 25387952 Free PMC article. - Nectin family of cell-adhesion molecules: structural and molecular aspects of function and specificity.
Samanta D, Almo SC. Samanta D, et al. Cell Mol Life Sci. 2015 Feb;72(4):645-58. doi: 10.1007/s00018-014-1763-4. Epub 2014 Oct 19. Cell Mol Life Sci. 2015. PMID: 25326769 Free PMC article. Review. - Afadin requirement for cytokine expressions in keratinocytes during chemically induced inflammation in mice.
Yoshida T, Iwata T, Takai Y, Birchmeier W, Yamato M, Okano T. Yoshida T, et al. Genes Cells. 2014 Nov;19(11):842-52. doi: 10.1111/gtc.12184. Epub 2014 Oct 9. Genes Cells. 2014. PMID: 25297509 Free PMC article. - Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F. Fortugno P, et al. J Invest Dermatol. 2014 Aug;134(8):2146-2153. doi: 10.1038/jid.2014.119. Epub 2014 Feb 27. J Invest Dermatol. 2014. PMID: 24577405
References
- Cleft Palate J. 1978 Oct;15(4):306-28 - PubMed
MeSH terms
LinkOut - more resources
Full Text Sources