Fibrochondrogenesis: clinical and radiological features.
We report an Omani child with fibrochondrogenesis. This neonatally lethal bone dysplasia is characterized by a distinctive facial appearance and specific radiological changes. Only seven cases have been reported previously. The clinical and radiological features together with the differential diagnosis is discussed.
al-Gazali
L I
LI
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. paed@medic.uaeu.ac.ae
Bakalinova
D
D
Bakir
M
M
Dawodu
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000473:pathology*; D011859:Radiography; D012886:Skull / Q000002:abnormalities