A CASE OF ONYCOTRICODYSPLASIA WITH INTELLECTUAL DISABILITY, WITHOUT NEUTROPENIA

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

GENETIC COUNSELING, cilt.23, sa.3, ss.389-392, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 3
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.389-392
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.