A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination.
Carpenter syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome. The case we present was diagnosed prenatally at 20 weeks. Postmortem examination revealed severe central nervous system malformations. The central nervous system anomalies in this 23-week-old fetus merit emphasis, since these anomalies in such a young fetus may explain Carpenter syndrome cases, which do not improve in spite of early surgical intervention.
Balci
S
S
Department of Genetics, Hacettepe University Children's Hospital, Ankara, Turkey.
Onol
B
B
Eryilmaz
M
M
Haytoglu
T
T
D000022:Abortion, Spontaneous; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D019465:Craniofacial Abnormalities; D003398:Craniosynostoses; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography