Acrocephalosyndactyly I (Apert syndrome)

A fourteen years old girl showed the classic signs of acrocephalosyndactyly I. dysostosis craniofacialis with hypertelorism, exophthalmus, strabism, a mblyopia and cleft palate as well as syndactyly of the fingers and toes. Th e feet showed on both side a 6 cm long horny band. Since the twelfth year o f life, she had suffered from papulo-pustular acne with many comedomes. Her menstruation started one year later, intellectual development was normal. At time of her birth, her father was 54 years old, and her mother 36 yea rs old. Two elder siblings are healthy. The inheritance of acrocephalosyndact yly I is usually autosomal dominant, but sporadic cases are frequent.