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.
Article
in Zh
| WPRIM
| ID: wpr-689600
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Psychology
/
Psychomotor Disorders
/
Retinal Degeneration
/
Congenital Abnormalities
/
Base Sequence
/
Developmental Disabilities
/
Vesicular Transport Proteins
/
Diagnosis
/
Fingers
/
Genetics
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2018
Type:
Article