Literature DB >> 11822699

X-linked inheritance of Dandy-Walker variant.

Emma L Wakeling1, Matthew Jolly, Nicholas M Fisk, Caroline Gannon, Susan E Holder.   

Abstract

We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait.

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Year:  2002        PMID: 11822699     DOI: 10.1097/00019605-200201000-00003

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  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

2.  Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study.

Authors:  Filipa Bernardino; Kai Rentmeister; Martin J Schmidt; Andreas Bruehschwein; Kaspar Matiasek; Lara A Matiasek; Alexander Lauda; Heinz A Schoon; Andrea Fischer
Journal:  PLoS One       Date:  2015-02-10       Impact factor: 3.240

  2 in total

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