Unusual facies with delayed development and multiple malformations in a 14-month-old boy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 921-925, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-297184
ABSTRACT
Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Congênitas
/
Anormalidades Múltiplas
/
Deformidades Congênitas da Mão
/
Deficiências do Desenvolvimento
/
Anormalidades Craniofaciais
/
Diagnóstico
/
Face
/
Genética
/
Deficiência Intelectual
/
Unhas Malformadas
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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