Lethal form of fibuloulnar A/hypoplasia with renal abnormalities.
The present report describes two sibs with lethal acrorenal developmental complex who were products of a nonconsanguinous marriage. Clinical and roentgenologic characteristics did not match any of the known types of fibuloulnar dysostosis. Distinct abnormalities included lethality at birth, facial anomalies, ear anomalies, symmetrical mesomelic shortness of long bones, fibular agenesis, normal vertebrae, oligosyndactyly of phalanges, congenital heart defect, and cystic or hypoplastic kidney. These cases suggest a new lethal form of recessively inherited fibuloulnar dysostosis with renal anomalies.
Department of Obstetrics and Gynecology, Kyushu Rosai Hospital, Japan.
N
N
Saito
A
A
Kuba
T
T
Tsuruta
D000015:Abnormalities, Multiple / Q000401:mortality* / Q000473:pathology; D004413:Dysostoses / Q000151:congenital* / Q000401:mortality / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005260:Female; D005313:Fetal Death / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D011859:Radiography; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging