Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.
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.
Dallapiccola
B
B
Department of Human Genetics, Tor Vergata University of Rome, San Giovanni Rotondo, Italy.
Mingarelli
R
R
Obregon
G
G
D000328:Adult; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006403:Hematologic Tests; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009262:Nails / Q000648:ultrastructure; D009264:Nails, Malformed; D009503:Neutropenia / Q000235:genetics*; D013577:Syndrome