A CASE OF ONYCOTRICODYSPLASIA WITH INTELLECTUAL DISABILITY, WITHOUT NEUTROPENIA


IKBAL M. , EKER H. K. , TOS T., ALP M. Y. , ÇEBİ A. H.

GENETIC COUNSELING, vol.23, no.3, pp.389-392, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2012
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.389-392

Abstract

A case of onycotricodysplasia with intellectual disability without neutropenia: Onychotrichodysplasia, a rare autosomal recessive disorder, presents with hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation. Here, we describe a rare presentation of a child with onycotrichodysplasia associated with intellectual disability, but without neutropenia. He had sparse, short, dry, curly hair, dysplastic nails and intellectual disability. In contrast to cases described earlier, our patient had normal neutrophil count.