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Apert syndrome, an antenatal ultrasound detected case
P Parent1, H Le Guern, M R Munck
1Service de Pédiatrie et Génétique Médicale, CHU Morvan, Bres, France.
Abstract:
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.