Lethal short-rib with median cleft and without polydactyly: a fourth case.
A new case of Beemer short-rib lethal dwarfism is presented in a 27 weeks fetus with discussion of the radiological and clinical pecularities. Differential diagnosis with other short-rib-polydactyly syndromes is briefly developped.
van Maldergem
L
L
Centre de Génétique Humaine, Institut de Morphologie Pathologique, Loverval, Belgium.
Gillerot
Y
Y
Salmin
E
E
Verloes
A
A
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002972:Cleft Palate; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013796:Thanatophoric Dysplasia / Q000175:diagnosis*