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 neutrope...

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Bibliographic Details
Published inGenetic counseling Vol. 23; no. 3; pp. 389 - 392
Main Authors Ikbal, M, Eker, H K, Tos, T, Alp, M Y, Cebi, A H
Format Journal Article
LanguageEnglish
Published Switzerland Éditions Médecine et Hygiène 01.01.2012
Subjects
Child, Preschool
Hair - abnormalities
Hair - physiopathology
Humans
Intellectual Disability - diagnosis
Intellectual Disability - physiopathology
Leukocyte Count
Male
Nails, Malformed - diagnosis
Nails, Malformed - physiopathology
Neutropenia - diagnosis
Neutropenia - physiopathology
Neutrophils - cytology
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:1015-8146