Thanatophoric dysplasia: Antenatal to postmortem

Chavadi, Chanabasappa; Mahale, Nina; Jasthi, Goutham; Prabhu, Sonali; Kory, Swetha

doi:10.4103/0974-5009.165584

Cited by 1 publication

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“…13,14 The long bones in TD 1 are curved and appears like telephone receiver on radiographs. 15 Thanatophoric dysplasia type 2 is characterized by clover leaf shaped skull due topremature closure of coronal and lambdoid suturesand the long bones are not bent or curved. 16,17 Most cases of TD are delivered still birth and those born alive rarely survive due to pulmonary insufficiency from narrow chest and hypoplastic lungs commonly seen in TD.…”

Section: Discussionmentioning

confidence: 99%

Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report

Daniyan¹,

Ezeanosike²,

Ogbonna-Nwosu³

et al. 2020

Nig. J. Paed.

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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

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Section: Discussionmentioning

confidence: 99%