Thanatophoric dysplasia: a rare entity
Oman Medical Journal. 2011; 26 (3): 196-197
Dans Anglais
| 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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Indice:
Méditerranée orientale
Sujet Principal:
Malformations
/
Dysplasie thanatophore
/
Issue de la grossesse
/
Échographie prénatale
/
Récepteur de type 3 des facteurs de croissance fibroblastique
/
Mutation
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Oman Med. J.
Année:
2011
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