Publication: Chondrodysplasia Punctata
Date
2014
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 57 - 61
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
We report a case of two and a half months old male child affected by chondrodysplasia punctata, a rare condition characterized by depressed nasal bridge, hypoplastic distal phalanges and epiphyseal stippling of the bones.
Description
GS Narang
Professor, Sri Guru Ram Das Institute of Medical Science and Research, Vallah, Amritsar
S Arora
Associate Professor, Sri Guru Ram Das Institute of Medical Science and Research, Vallah, Amritsar
MS Khurana
Associate Professor, Sri Guru Ram Das Institute of Medical Science and Research, Vallah, Amritsar
T Singh
Assistant Professor, Sri Guru Ram Das Institute of Medical Science and Research, Vallah, Amritsar
Dr Shifali
Resident, Sri Guru Ram Das Institute of Medical Science and Research, Vallah, Amritsar
Keywords
hypoplastic distal phalanges, epiphyseal stippeling, shortening of limbs
Identifier
https://doi.org/10.3126/jnps.v34i1.9110