Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.
Clin Genet
April 1994
Department of Human Genetics, Tor Vergata University of Rome, San Giovanni Rotondo, Italy.
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.
View Article and Find Full Text PDFA 9-year-old boy with onychotrichodysplasia and chronic neutropenia is presented. In contrast to cases described earlier, our patient has normal intelligence. The typical features of trichorrhexis nodosa are shown by electronmicroscopic photography.
View Article and Find Full Text PDFThis report describes and discusses the occurrence in two sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with one previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!