Publication: Thanatophoric Dysplasia
Date
2015
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 304 - 306
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified clinically. The incidence is approximately 1/20,000 to 1/50,000. Type I TD being more frequent than Type II. Most individuals with TD die within the first few hours.This condition has characteristic sonographic features detected antenatally by midgestation, although distinction from other short-limbed dysplasia syndromes may be difficult. We report a case of type I TD with typical clinicoradiological features who succumbed within one hour of life.
Description
Sachendra Badal
Graded Specialist (Paediatrics) IMTRAT Military Hospital
Shuvendu Roy
Senior Advisor (Paediatrics) & Pediatric Neurologist, Army Hospital (R & R), New Delhi 110010
Daljit Singh
Air Officer Commanding, 7 Air Force Hospital (Kanpur, UP) and Neonatologist
Keywords
Thanatophoric dysplasia, kleeblattschaedel, cloverleaf skull, lethal skeletal dysplasia
Identifier
https://doi.org/10.3126/jnps.v35i3.11946