AUTOSOMAL-DOMINANT INHERITANCE OF ADDUCTED THUMBS AND OTHER DIGITAL ANOMALIES

Citation
A. Miranda et al., AUTOSOMAL-DOMINANT INHERITANCE OF ADDUCTED THUMBS AND OTHER DIGITAL ANOMALIES, Clinical genetics, 54(1), 1998, pp. 83-85
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
54
Issue
1
Year of publication
1998
Pages
83 - 85
Database
ISI
SICI code
0009-9163(1998)54:1<83:AIOATA>2.0.ZU;2-F
Abstract
Isolated adducted thumbs is an uncommon malformation that occurs spora dically in the majority of cases although some affected families have been reported. Previously, autosomal dominant inheritance was suggeste d in two familial cases, but this mode of inheritance has not been con firmed. Here we describe a family with adducted thumbs and other digi tal anomalies in which seven members (six females and one male) are af fected in three consecutive generations. Additionally, the patients sh owed mild abnormalities of fingers 2nd-4th bilaterally and hypoplasia of the middle phalanx of the 5th fingers. This family represents an au tosomal dominant condition that apparently has not been previously rep orted. (C) Munksgaard, 1998.