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Title: Asphyxiating thoracic dystrophy with facial dysmorphism.
Authors: Sankar, V H
Phadke, Shubha R
Issue Date: 5-Dec-2006
Citation: Sankar VH, Phadke SR. Asphyxiating thoracic dystrophy with facial dysmorphism. Indian Journal of Pediatrics. 2006 Dec; 73(12): 1115-8
Abstract: Here it is reported a male newborn baby with features of asphyxiating thoracic dystrophy (ATD) with facial dysmorphism. The disproportionate rhizomelic short stature, narrow thorax, long fibulae, wide metaphysis and trident acetabule are consistent with diagnosis of ATD. In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date.
Appears in Collections:Indian Journal of Pediatrics

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