학술논문
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis.
Document Type
Academic Journal
Author
Chhavi N; Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.; Prashanth S; Venkatesh C; Karthikeyan K
Source
Publisher: Medknow Publications on behalf of Indian Society of Human Genetics Country of Publication: India NLM ID: 101223637 Publication Model: Print Cited Medium: Print ISSN: 0971-6866 (Print) Linking ISSN: 1998362X NLM ISO Abbreviation: Indian J Hum Genet Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
0971-6866
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.