Literature DB >> 12749032

A new report of mesomelic camptomelia, polydactyly and Dandy-Walker complex in siblings.

S Planas1, R Peiró, R Rubio, R Villanueva, A Serés, R Carreras.   

Abstract

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy-Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright 2003 John Wiley & Sons, Ltd.

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Year:  2003        PMID: 12749032     DOI: 10.1002/pd.601

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  2 in total

1.  Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritance.

Authors:  Thomas W H Bragg; Edward J St George; Guy A Wynne-Jones; Anthony Hockley; Jenny E V Morton
Journal:  Childs Nerv Syst       Date:  2005-11-01       Impact factor: 1.475

Review 2.  Review of literature: genes related to postaxial polydactyly.

Authors:  Prashant Kumar Verma; Ashraf A El-Harouni
Journal:  Front Pediatr       Date:  2015-02-11       Impact factor: 3.418

  2 in total

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