Chhavi Nanda, Prashanth Sankar, Venkatesh Chandrasekaran, Karthikeyan Kadirvel
Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.
Indian J Hum Genet. 2012 Sep;18(3):344-5. doi: 10.4103/0971-6866.107990.
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.
一名男婴出生时伴有肢体近侧段短小。骨骼X线片显示肱骨、股骨和胫骨骨骺有斑点状钙化。现报告该疾病的诊断以及对相关文献的简要综述，重点在于产前诊断和咨询。
