Literature DB >> 6442411

[Aarskog's syndrome. Description of a case and endocrinological study].

G Saggese, S Bertelloni, G I Baroncelli, L Calisti.   

Abstract

A 7-year-old male with the Aarskog Syndrome is described. This observation is the seventh of the italian literature. The child had the typical findings of the syndrome: short stature, abnormal facies, short fingers with interdigital webbing, unusual scrotal folds encircling the penis ventrally, cryptorchidism and mild mental retardation. Endocrinological study showed only a reduction of Testosterone secretion attributable to malposition of the testis. The presence of minor abnormalities in the mother is compatible with a "X-linked" recessive transmission or with inheritance of an autosomal gene, dominant in males and recessive in females (sex controlled).

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Year:  1983        PMID: 6442411

Source DB:  PubMed          Journal:  Pediatr Med Chir        ISSN: 0391-5387


  1 in total

1.  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

  1 in total

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