Aplasia/Hypoplasia of the tibia

MedGen UID:: 370609
•Concept ID:: C1969181
•: Finding

Synonym:	Aplastic/hypoplastic tibia

HPO:	HP:0005772

Definition

Absence or underdevelopment of the tibia. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the tibia

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Aplasia/hypoplasia involving bones of the extremities
      - Aplasia/hypoplasia involving bones of the lower limbs
        Aplasia/Hypoplasia of the tibia
        Rudimentary to absent tibiae
        Short tibia
        Disproportionate shortening of the tibia
        Proximal tibial hypoplasia

Recent clinical studies

Etiology

Imaging features of lower limb malformations above the foot.

Bergère A, Amzallag-Bellenger E, Lefebvre G, Dieux-Coeslier A, Mezel A, Herbaux B, Boutry N
Diagn Interv Imaging 2015 Sep;96(9):901-14. Epub 2015 Apr 24 doi: 10.1016/j.diii.2014.08.008. PMID: 25920687

See all (1)

Diagnosis

Imaging features of lower limb malformations above the foot.

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.

Bernardi P, Graziadio C, Rosa RF, Dall'Agnol L, Zen PR, Paskulin GA
Am J Med Genet A 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943. PMID: 19533791

See all (3)

Prognosis

Imaging features of lower limb malformations above the foot.

See all (1)

Clinical prediction guides

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?

Majewski E, Goecke T, Meinecke P
Am J Med Genet 1996 May 3;63(1):185-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<185::AID-AJMG32>3.0.CO;2-I. PMID: 8723107

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Aplasia/Hypoplasia of the tibia

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

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