Congenital osteogenesis imperfecta in three sibs

Three sibs of a Turkish family were affected with lethal congenital osteogenesis imperfecta (OI). The disease was characterized by extremely fragile bones and crumpled femora, but in contrast to reported cases of OI type II, relatively normal ribs with only few fractures. The children affected died...

Full description

Saved in:
Bibliographic Details
Published inHuman genetics Vol. 58; no. 4; p. 441
Main Authors Braga, S, Passarge, E
Format Journal Article
LanguageEnglish
Published Germany 1981
Subjects
Female
Genetic Counseling
Humans
Infant, Newborn
Male
Osteogenesis Imperfecta - genetics
Pedigree
Risk
Online AccessGet more information

Cover

More Information
Summary:Three sibs of a Turkish family were affected with lethal congenital osteogenesis imperfecta (OI). The disease was characterized by extremely fragile bones and crumpled femora, but in contrast to reported cases of OI type II, relatively normal ribs with only few fractures. The children affected died shortly after birth. Although their parents both came from the same small village in Turkey, consanguinity could not be demonstrated. Our observations support that this disorder is inherited in an autosomal recessive mode. We consider the possibility that these patients represent either a new subgroup of OI type II (milder, although still lethal) or of type III (more severe).
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00282834