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Thanatophoric dysplasia: a rare entity
Oman Medical Journal. 2011; 26 (3): 196-197
in English | 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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Index: IMEMR (Eastern Mediterranean) Main subject: Congenital Abnormalities / Thanatophoric Dysplasia / Pregnancy Outcome / Ultrasonography, Prenatal / Receptor, Fibroblast Growth Factor, Type 3 / Mutation Type of study: Case report Limits: Humans / Male Language: English Journal: Oman Med. J. Year: 2011

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Index: IMEMR (Eastern Mediterranean) Main subject: Congenital Abnormalities / Thanatophoric Dysplasia / Pregnancy Outcome / Ultrasonography, Prenatal / Receptor, Fibroblast Growth Factor, Type 3 / Mutation Type of study: Case report Limits: Humans / Male Language: English Journal: Oman Med. J. Year: 2011