Apert syndrome and fetal hydrocephaly.
Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of Apert syndrome. We report a case of Apert syndrome presenting as fetal hydrocephaly at 28 weeks gestational age, and we review the literature. We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000328:Adult; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography