[Psychomotor retardation with neutropenia for more than one year in a toddler].
Zhongguo Dang Dai Er Ke Za Zhi
; 20(6): 497-500, 2018 Jun.
Article
em Zh
| MEDLINE
| ID: mdl-29972126
ABSTRACT
A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neutropenia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
China