التفاصيل البيبلوغرافية
| العنوان: |
Case Report on Short Limb Dwarfism - Rhizomelic Chondrodysplasia Punctata. |
| المؤلفون: |
Thakkar, Pareshkumar A., Tripathi, Neha, Aiyer, Sheila |
| المصدر: |
Journal of Clinical Neonatology; Apr-Jun2015, Vol. 4 Issue 2, p135-137, 3p |
| مصطلحات موضوعية: |
BRAIN diseases, DWARFISM, DEVELOPMENTAL biology, ACHONDROPLASIA, PEROXISOMAL disorders, GENETIC disorders in children, PHENOTYPES, NEONATAL intensive care |
| مستخلص: |
We are reporting a case of rhizomelic chondrodysplasia punctata, which is a rare form of peroxisomal disorder. It is an autosomal recessive disorder with distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific radiological abnormality like punctate epiphyseal calcification.[1] A Hindu male baby, born at term (40 weeks) by vaginal delivery, had a weak cry at birth referred to Neonatal Intensive Care Unit for fast breathing. Baby had proximal shortening of upper limbs and lower limbs. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract. [ABSTRACT FROM AUTHOR] |
|
Copyright of Journal of Clinical Neonatology is the property of Wolters Kluwer India Pvt Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
