Open AccessThanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report
Author(s) -
Olapeju Wunmi Daniyan,
Obumneme Ezeanosike,
ChinyereGeorgiana Ogbonna-Nwosu,
U.C. Iloduba
Publication year - 2020
Publication title -
nigerian journal of paediatrics
Language(s) - English
Resource type - Journals
ISSN - 0302-4660
DOI - 10.4314/njp.v47i3.14
Subject(s) - macrocephaly , frontal bossing , medicine , fibroblast growth factor receptor 3 , dysplasia , anatomy , pediatrics , pathology , fibroblast growth factor , receptor
Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word thanatophorus meaning death bringing. Thanatophoric dysplasia results from mutations within the Fibroblast Growth Factor Receptor 3 (FGFR3) gene which is located on chromosome 4p16.3. A female neonate with dysmorphic features such as macrocephaly, frontal bossing, periorbital swelling and depressed nasal bridge was delivered to a 35year old woman. The upper and lower limbs were short with excessive skin folds. A case of female neonate with thanatophoric dysplasia is hereby reported to raise awareness of this condition and to describe the features of thanatophoric dysplasia seen in this patient .
Key words: Thanatophoric Dysplasia (TD), Fibroblast Growth Factor Receptor 3 Gene (FGFR3), dysmorphic, macrocephaly