Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported on nine patients. We report on a boy with fibrochondrogenesis whose parents were second cousins. Prenatal ultrasonography performed at 22 weeks of gestation revealed an intrauterine growth retardation, an apparently large head, an hypoplasia of the thorax, a prominent abdomen, rhizomelic limbs, and wide metaphysis. The latest have never been reported in other lethal dysplasias.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Haddad
S
S
Berjaoui
L
L
D001842:Bone and Bones / Q000002:abnormalities; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal