Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.
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.
Williams
E M
EM
Department of Medical Genetics, Morriston Hospital, Swansea, UK.
Nicholls
A C
AC
Daw
S C
SC
Mitchell
N
N
Levin
L S
LS
Green
B
B
MacKenzie
J
J
Evans
D R
DR
Chudleigh
P A
PA
Pope
F M
FM
D003094:Collagen / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005313:Fetal Death; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D010013:Osteogenesis Imperfecta / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D014463:Ultrasonography
D003094:Collagen