[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)]

Pediatr Med Chir. 1981 Jul-Aug;3(4):323-5.
[Article in Italian]

Abstract

A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Blepharoptosis / complications
  • Child
  • Face / abnormalities*
  • Hand Deformities, Congenital*
  • Humans
  • Male
  • Pedigree
  • Scrotum / abnormalities*
  • Syndrome