Anomalous inheritance in a kindred with split hand, split foot malformation.

Abstract:

:A South African family with autosomal dominant split hand, split foot (SHSF) malformation has been studied. The pedigree was unusual in that three unaffected siblings with normal parents had each produced affected offspring. New mutation, germinal mosaicism and autosomal recessive inheritance are unlikely. Possible explanations of this contentious situation may be an unstable premutation or non-penetrance due to an inhibiting factor associated with the gene responsible for SHSF. Pregnancy monitoring by ultrasound of unaffected close relatives of a person with SHSF is recommended.

journal_name

Eur J Pediatr

authors

Spranger M,Schapera J

doi

10.1007/BF00442225

subject

Has Abstract

pub_date

1988-02-01 00:00:00

pages

202-5

issue

2

eissn

0340-6199

issn

1432-1076

journal_volume

147

pub_type

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