Literature DB >> 8116671

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

L C Adès1, W K Clapton, A Morphett, L L Morris, E A Haan.   

Abstract

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

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Year:  1994        PMID: 8116671     DOI: 10.1002/ajmg.1320490211

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

Review 1.  The Smith-Lemli-Opitz syndrome.

Authors:  R I Kelley; R C Hennekam
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

2.  TCTN3 mutations cause Mohr-Majewski syndrome.

Authors:  Sophie Thomas; Marine Legendre; Sophie Saunier; Bettina Bessières; Caroline Alby; Maryse Bonnière; Annick Toutain; Laurence Loeuillet; Katarzyna Szymanska; Frédérique Jossic; Dominique Gaillard; Mohamed Tahar Yacoubi; Soumaya Mougou-Zerelli; Albert David; Marie-Anne Barthez; Yves Ville; Christine Bole-Feysot; Patrick Nitschke; Stanislas Lyonnet; Arnold Munnich; Colin A Johnson; Férechté Encha-Razavi; Valérie Cormier-Daire; Christel Thauvin-Robinet; Michel Vekemans; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2012-08-10       Impact factor: 11.025

Review 3.  The relationship between sonic Hedgehog signaling, cilia, and neural tube defects.

Authors:  Jennifer N Murdoch; Andrew J Copp
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-08

4.  The many faces of oral-facial-digital syndrome.

Authors:  E Sukarova-Angelovska; N Angelkova; S Palcevska-Kocevska; M Kocova
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

5.  Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome).

Authors:  Meltem Ozdemir-Karatas; Didem Ozdemir-Ozenen; P Suzanne Hart; Thomas C Hart
Journal:  Case Rep Dent       Date:  2014-12-21
  5 in total

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