Identifying Aarskog Syndrome

Aarskog syndrome.

Aarskog syndrome (facio-digital-genital syndrome) was first described in 1970 by Dagfm Aarskog' who presented seven males from one family with a growth disorder and associated anomalies. A year later Scott2 reported three brothers with similar features and since then there have been over 100 cases published.3A20 We are aware of 12 subjects with Aarskog syndrome living in the west of Scotland (p...

Mania with Aarskog-Scott syndrome.

Aarskog-Scott syndrome is transmitted as an X-linked trait and affects males. We report a 10-year-old boy presenting with complaints of increased temper tantrums, demanding behavior, grandiose ideas, over familiarity, abusive assaultive behavior and tobacco abuse. On examination, patient had most of the physical characteristics of Aarskog-Scott Syndrome. He also had global developmental delay a...

Aarskog-Scott syndrome: phenotypic and genetic heterogeneity

Aarskog-Scott syndrome (AAS) is a rare developmental disorder which primarily affects males and has a relative prevalence of 1 in 25,000 in the general population. AAS patients usually present with developmental complications including short stature and facial, skeletal and urogenital anomalies. The spectrum of genotype-phenotype correlations in AAS is unclear and mutations of the FGD1 gene on ...

Intelligence and development in Aarskog syndrome.

AIM To test the hypothesis that overall intelligence quotient (IQ) is decreased in patients with Aarskog syndrome. METHODS 21 boys under 17 years of age with a confirmed clinical diagnosis of Aarskog syndrome were assessed using the Griffiths mental development scales and the British ability scales. RESULTS IQ ranged from 68 to 128 and followed a normal distribution. CONCLUSION This study...

Metatarsus adductus in two brothers with Aarskog syndrome.