Tibial hemimelia

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.

Triphalangeal thumb

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.


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(per page)
PMID (PMCID)
27530878
 MALE Infant
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.
Shah K, Shah H.
BMJ Case Rep. 2016;2016:.
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.
22314436
 MALE Infant, Newborn
Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.
Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH.
J Pediatr Orthop B. 2013;22(3):219-21.
Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested.
2147335
 FEMALE
[Mesomelic dysplasia: presentation of a case and literature of Werner's syndrome].
Hesselschwerdt HJ, Heisel J.
Z Orthop Ihre Grenzgeb. 1990;128(5):466-72.
The extremely rare Werner syndrome (tibial hemimelia, foot polydactyly, triphalangeal thumbs) is represented by an own case: a 21 year old female has been treated since her birth in the orthopedic department of Homburg/Saar university clinic.
2147335
 FEMALE
[Mesomelic dysplasia: presentation of a case and literature of Werner's syndrome].
Hesselschwerdt HJ, Heisel J.
Z Orthop Ihre Grenzgeb. 1990;128(5):466-72.
In several publications we find different classifications of the collective name, tibial hemimelia'; the symptom-triade congenital tibia-defect/foot-polydactyly/triphalangeal thumb was of special interest.