PMID: 9192265Jun 1, 1997Paper

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation

Journal of Medical Genetics
R E StevensonC E Schwartz

Abstract

A syndrome with distinctive facies, poor muscle tone, absent deep tendon reflexes, tapered fingers, excessive fingerprint arches, genu valgum and mild-moderate mental retardation has occurred in four males in two generations of a white family of European ancestry. The facies are characterised by square configuration, tented upper lip, and thickening of the helices, upper eyelids, and alae nasi. At birth and at maturity, growth (head circumference, height, weight) of affected males is comparable to or greater than unaffected male sibs. Moderate impairment of cognitive function was documented (IQ scores between 40-51). Carriers show no heterozygote manifestations. This X linked condition appears to be different from other syndromes with mental retardation, although there are certain similarities with the alpha thalassaemia-mental retardation syndrome (ATR-X). Linkage analysis found tight linkage to DXS1166 and DXS995 in Xq13 and Xq21 respectively.

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Citations

Apr 16, 1998·Journal of Medical Genetics·Y J Crow, J L Tolmie
Apr 18, 2006·Journal of Physiological Anthropology·Nagahisa Matsuyama, Yohko Ito
Apr 20, 1999·American Journal of Medical Genetics·J J HoldenP J Willems
Oct 26, 2000·American Journal of Medical Genetics·R E StevensonL B Holmes
Oct 28, 2004·European Journal of Human Genetics : EJHG·Fatima E AbidiCharles E Schwartz
Apr 21, 2001·European Journal of Human Genetics : EJHG·P ChiurazziG Neri
Jul 24, 2004·Critical Reviews in Clinical Laboratory Sciences·Pietro ChiurazziGiovanni Neri

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