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Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta
Author(s) -
Williams E. Mair,
Nicholls Alan C.,
Daw Sara C. M.,
Mitchell Nan,
Levin L. Stefan,
Green Bryan,
MacKenzie Janet,
Evans DewiR.,
Chudleigh Patricia A.,
Pope F. Michael
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02926.x
Subject(s) - osteogenesis imperfecta , phenotype , genetics , osteochondrodysplasia , biology , medicine , gene , anatomy
Severe Sillence type II/III Osteogenesis imperfecta (OI) is a lethal or severely crippling disease with either autosomal dominant or recessively inherited type I collagen mutations. Here we describe the detailed clinical features of a thin‐ribbed OI variant with deformed limbs. The three consecutively affected children showed no genetic linkage with either of the two type I collagen genes, which implies that a novel mechanism causes this clinical phenotype. It can be prevented using ultrasound to diagnose affected foetuses.