Thanatophoric dysplasia: a rare entity
Oman Medical Journal. 2011; 26 (3): 196-197
em Inglês
| IMEMR
| ID: emr-125053
ABSTRACT
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Anormalidades Congênitas
/
Displasia Tanatofórica
/
Resultado da Gravidez
/
Ultrassonografia Pré-Natal
/
Receptor Tipo 3 de Fator de Crescimento de Fibroblastos
/
Mutação
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Oman Med. J.
Ano de publicação:
2011
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