Asphyxiating thoracic dystrophy with facial dysmorphism.
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.
Sankar
V H
VH
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Phadke
Shubha R
SR
D001238:Asphyxia Neonatorum / Q000150:complications*; D019465:Craniofacial Abnormalities / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D013902:Radiography, Thoracic; D013909:Thorax / Q000002:abnormalities*; D013933:Thumb / Q000473:pathology; D014034:Toes / Q000473:pathology