Apert syndrome, an antenatal ultrasound detected case.
Apert's syndrome or acrocephalosyndactyly type I is an autosomal dominant craniosynostosis syndrome with abnormalities of the hands and feet. Most cases occur as new mutations. Mental retardation is frequent because of central nervous system abnormalities. A case of Apert's syndrome detected by antenatal ultrasound examination is reported by the authors.
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Service de Pédiatrie et Génétique Médicale, CHU Morvan, Bres, France.
Le Guern
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Munck
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Thoma
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D000025:Abortion, Eugenic; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D016216:Ultrasonography, Prenatal