Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies - PubMed (original) (raw)
Case Reports
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies
P Meinecke et al. J Med Genet. 1990 Mar.
Abstract
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features show considerable overlap with severe Majewski type short rib-polydactyly syndrome and so expand the known spectrum of anomalies in orofaciodigital syndrome type IV.
Similar articles
- Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings.
Kahl P, Heukamp LC, Buettner R, Friedrichs N, Roesing B, Knopfle G. Kahl P, et al. Pediatr Dev Pathol. 2007 May-Jun;10(3):239-43. doi: 10.2350/06-03-0058.1. Pediatr Dev Pathol. 2007. PMID: 17535085 - Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
Moerman P, Fryns JP. Moerman P, et al. Genet Couns. 1998;9(1):39-43. Genet Couns. 1998. PMID: 9555586 - Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.
Silengo MC, Bell GL, Biagioli M, Franceschini P. Silengo MC, et al. Clin Genet. 1987 May;31(5):331-6. doi: 10.1111/j.1399-0004.1987.tb02817.x. Clin Genet. 1987. PMID: 3608220 - Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.
Lin AE, Doshi N, Flom L, Tenenholz B, Filkins KL. Lin AE, et al. Am J Med Genet. 1991 Jun 1;39(3):247-51. doi: 10.1002/ajmg.1320390303. Am J Med Genet. 1991. PMID: 1867273 Review. - [25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI].
Váradi V, Papp Z. Váradi V, et al. Orv Hetil. 2005 Sep 25;146(39):2017-22. Orv Hetil. 2005. PMID: 16265870 Review. Hungarian.
Cited by
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK. Bruel AL, et al. Hum Mol Genet. 2023 Sep 5;32(18):2822-2831. doi: 10.1093/hmg/ddad109. Hum Mol Genet. 2023. PMID: 37384395 Free PMC article. - Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
Digilio MC, Marino B, Giannotti A, Dallapiccola B. Digilio MC, et al. J Med Genet. 1996 May;33(5):416-8. doi: 10.1136/jmg.33.5.416. J Med Genet. 1996. PMID: 8733055 Free PMC article. - Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).
Ozdemir-Karatas M, Ozdemir-Ozenen D, Hart PS, Hart TC. Ozdemir-Karatas M, et al. Case Rep Dent. 2014;2014:605892. doi: 10.1155/2014/605892. Epub 2014 Dec 21. Case Rep Dent. 2014. PMID: 25587461 Free PMC article. - Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A. David A, et al. J Med Genet. 1999 Aug;36(8):599-603. J Med Genet. 1999. PMID: 10465109 Free PMC article. - The many faces of oral-facial-digital syndrome.
Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M. Sukarova-Angelovska E, et al. Balkan J Med Genet. 2012 Jun;15(1):37-44. doi: 10.2478/v10034-012-0006-y. Balkan J Med Genet. 2012. PMID: 24052721 Free PMC article.
References
- J Med Genet. 1983 Feb;20(1):65-7 - PubMed
- J Med Genet. 1984 Jun;21(3):189-92 - PubMed
- Am J Med Genet. 1989 Feb;32(2):151-4 - PubMed
- Clin Genet. 1988 Nov;34(5):325-32 - PubMed
- Clin Genet. 1987 May;31(5):331-6 - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases