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.
Department of Medical Genetics, Karadeniz Technical University, Medical Faculty, Trabzon, Turkey.
M
M
Ikbal
H K
HK
Eker
T
T
Tos
M Y
MY
Alp
A H
AH
Cebi
D002675:Child, Preschool; D006197:Hair / Q000002:abnormalities / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000503:physiopathology*; D007958:Leukocyte Count; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis / Q000503:physiopathology*; D009503:Neutropenia / Q000175:diagnosis / Q000503:physiopathology*; D009504:Neutrophils / Q000166:cytology