Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta |
| |
Authors: | E Mair Williams Alan C Nicholls Sara C M Daw Nan Mitchell L Stefan Levin Bryan Green Janet MacKenzie Dewi-R Evans Patricia A Chudleigh F Michael Pope |
| |
Institution: | Department of Medical Genetics, Morriston Hospital, Swansea, UK. |
| |
Abstract: | 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. |
| |
Keywords: | collagen genes osteogenesis imperfecta |
|