A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum?
The case of a 20-week fetus is reported with almost completely deficient ossification of the vertebral bodies and absent ossification of several long bones. This could be a unique skeletal dysplasia or the most severe end of the atelosteogenesis spectrum.
Fryer
A E
AE
Regional Clinical Genetics Service, Royal Liverpool University Hospital, Liverpool L69 3BX, UK.
Carty
H
H
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005865:Gestational Age; D006801:Humans; D007866:Leg / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal