Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report
Journal of Korean Medical Science
;
: 604-608, 2000.
Artigo
em Inglês
| WPRIM
| ID: wpr-150726
ABSTRACT
Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acondroplasia
/
Osso e Ossos
/
Ultrassonografia Pré-Natal
/
Aborto Induzido
/
Doenças Fetais
Tipo de estudo:
Estudo diagnóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2000
Tipo de documento:
Artigo
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