Psychomotor retardation with neutropenia for more than one year in a toddler / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 497-500, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-689600
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Psicologia
/
Transtornos Psicomotores
/
Degeneração Retiniana
/
Anormalidades Congênitas
/
Sequência de Bases
/
Deficiências do Desenvolvimento
/
Proteínas de Transporte Vesicular
/
Diagnóstico
/
Dedos
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2018
Tipo de documento:
Artigo
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