Literature DB >> 7446107

The Aarskog syndrome.

V Oberiter, M K Lovrencić, L Schmutzer, O Kraus.   

Abstract

The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.

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Year:  1980        PMID: 7446107     DOI: 10.1111/j.1651-2227.1980.tb07135.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  3 in total

Review 1.  Stunted growth with more or less normal appearance.

Authors:  J R Bierich; H Enders; U Heinrich; R Huenges; M B Ranke; D Schoenberg
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

2.  New autosomal recessive faciodigitogenital syndrome.

Authors:  A S Teebi; K K Naguib; S Al-Awadi; Q A Al-Saleh
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

3.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995

  3 in total

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