Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis.
Indian J Hum Genet
;
2012 Sept; 18(3): 344-345
Article
in English
| IMSEAR
| ID: sea-145858
ABSTRACT
A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Screening study
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
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