A SEVERE CASE OF PFEIFFER SYNDROME ASSOCIATED WITH STUB THUMB ON THE MATERNAL SIDE OF THE FAMILY

Authors
KREIBORG S COHEN MM
Citation
S. Kreiborg et Mm. Cohen, A SEVERE CASE OF PFEIFFER SYNDROME ASSOCIATED WITH STUB THUMB ON THE MATERNAL SIDE OF THE FAMILY, Journal of craniofacial genetics and developmental biology, 13(2), 1993, pp. 73-75
Citations number
4
Categorie Soggetti
Genetics & Heredity","Developmental Biology","Anatomy & Morphology
Journal title
Journal of craniofacial genetics and developmental biology → ACNP
ISSN journal
02704145
Volume
13
Issue
2
Year of publication
1993
Pages
73 - 75
Database
ISI
SICI code
0270-4145(1993)13:2<73:ASCOPS>2.0.ZU;2-F
Abstract
We report a severe case of Pfeiffer syndrome with an early demise. The mother and her own father had unilateral stub thumb, which was inheri ted as a coincidental autosomal dominant trait. Although the affected thumb was short, it was not broad and neither family member had any fe atures of Pfeiffer syndrome. We conclude that our patient represents a new Pfeiffer syndrome mutation.