TY - JOUR
T1 - Thanatophoric dysplasia
T2 - A rare entity
AU - Naveen, N. S.
AU - Murlimanju, B. V.
AU - Kumar, Vishal
AU - Pulakunta, Thejodhar
AU - Jeeyar, H.
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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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U2 - 10. 5001/omj.2011.47
DO - 10. 5001/omj.2011.47
M3 - Article
AN - SCOPUS:84858264905
SN - 1999-768X
VL - 26
SP - 196
EP - 197
JO - Oman Medical Journal
JF - Oman Medical Journal
IS - 3
ER -