Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings.

Abstract

Three sibs, a boy and two girls, born to Moroccan consanguineous parents, were affected with a syndrome characterized by brittle hair, mental retardation, short stature, ataxia, and gonadal dysfunction. The hair in these three patients displayed the morphological and biochemical hallmarks of trichothiodystrophy (TTD). Gonadal function tests showed abnormal gonadotropic responses to LHRH, consistent with delayed puberty in the male and ovarian failure in both females. Comparison with previously reported cases of TTD associated with mental retardation suggests genetic heterogeneity, although specific biochemical markers are needed in order to answer this question.

• Authors: S Przedborski, A Ferster, S Goldman, R Wolter, M Song, T Tonnesen, R J Pollitt, E Vamos
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 35 Issue 4 Pg. 566-73 (Apr 1990) ISSN: 0148-7299 [Print] United States
• PMID: 2333887 (Publication Type: Journal Article)

Chemical References

• Copper

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Adolescent
• Ataxia
• Body Height
• Child, Preschool
• Consanguinity
• Copper (metabolism)
• Endocrine System Diseases
• Female
• Gonads (abnormalities)
• Hair (abnormalities, analysis)
• Humans
• Infant
• Intellectual Disability
• Male
• Syndrome