Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: A novel malformation syndrome

Hatem El-Shanti, Mojali Ahmad, Kamel Ajlouni

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We report on five individuals with the following consistent findings: alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. The clinical presentation of the XY gonadal dysgenesis was ambiguous genitalia, appearing as male or, more commonly, female. In one affected individual müllerian structures were present. The affected individuals come from two unrelated families. While in the first family the two affected individuals come from two related sibships, three affected individuals come from one sibship in the second family. Parents of affected individuals in the three sibships are first cousins. To our knowledge, this association has not been reported before. We speculate that the mode of inheritance of this disorder is autosomal recessive with probable sex limitation.

Original languageEnglish
Pages (from-to)36-40
Number of pages5
JournalEuropean Journal of Pediatrics
Volume162
Issue number1
DOIs
Publication statusPublished - 2003
Externally publishedYes

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Keywords

  • Alopecia universalis congenita
  • Gonadal dysgenesis
  • Laryngomalacia
  • Short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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