Literature DB >> 11057397

[Acrocephalosyndactyly I (Apert syndrome)].

G Linss1.   

Abstract

A fourteen years old girl showed the classic signs of acrocephalosyndactyly I: dysostosis craniofacialis with hypertelorism, exophthalmus, strabism, amblyopia and cleft palate as well as syndactyly of the fingers and toes. The feet showed on both side a 6 cm long horny band. Since the twelfth year of 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 years old. Two elder siblings are healthy. The inheritance of acrocephalosyndactyly I is usually autosomal dominant, but sporadic cases are frequent.

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Year:  2000        PMID: 11057397     DOI: 10.1007/s001050051196

Source DB:  PubMed          Journal:  Hautarzt        ISSN: 0017-8470            Impact factor:   0.751


  1 in total

1.  Role of FGFR2-signaling in the pathogenesis of acne.

Authors:  Bodo C Melnik
Journal:  Dermatoendocrinol       Date:  2009-05
  1 in total

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