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Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome
- Authors: Kovalenko-Klychkova N.A.1, Kenis V.M.1, Klychkova I.Y.1
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Affiliations:
- Turner Scientific and Research Institute for Children’s Orthopedics
- Issue: Vol 19, No 3 (2013)
- Pages: 143-147
- Section: Case Reports
- Submitted: 01.11.2016
- Published: 30.09.2013
- URL: https://journal.rniito.org/jour/article/view/367
- DOI: https://doi.org/10.21823/2311-2905-2013--3-143-147
- ID: 367
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Abstract
Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.
About the authors
N. A. Kovalenko-Klychkova
Turner Scientific and Research Institute for Children’s Orthopedics
Author for correspondence.
Email: n-kovalenko85@mail.ru
Россия
V. M. Kenis
Turner Scientific and Research Institute for Children’s Orthopedics
Email: kenis@mail.ru
Россия
I. Y. Klychkova
Turner Scientific and Research Institute for Children’s Orthopedics
Email: klyckova@yandex.ru
Россия
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