Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): A second case report

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Abstract

Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome (ONMRS) is a rare autosomal recessive mutation, mostly reported in patients of Mexican ancestry. We describe a second patient with onychotrichodysplasia and chronic neutropenia without mental retardation (ONS). It is unclear if ONS found in the two European patients with normal mental development is due to genetic heterogeneity or variable expressivity of the same syndrome.

Original languageEnglish
Pages (from-to)200-202
Number of pages3
JournalClinical Genetics
Volume45
Issue number4
Publication statusPublished - 1994

Keywords

  • Autosomal recessive inheritance
  • Mental retardation
  • Neutropenia
  • ONMR syndrome
  • Onychotrichodysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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