Tibial hypoplasia with a bifid tibia

an unclassified tibial hemimelia

Research output: Contribution to journalArticle

Abstract

Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

Original languageEnglish
JournalBMJ Case Reports
Volume2016
DOIs
Publication statusPublished - 16-08-2016

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Tibia
Hand-Foot Syndrome
Werner Syndrome
Polydactyly
Craniosynostoses
Absence of Tibia
Foot
Extremities
Hand

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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title = "Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia",
abstract = "Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.",
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Tibial hypoplasia with a bifid tibia : an unclassified tibial hemimelia. / Shah, Krupa; Shah, Hitesh.

In: BMJ Case Reports, Vol. 2016, 16.08.2016.

Research output: Contribution to journalArticle

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