Aplasia/hypoplasia involving bones of the extremities

MedGen UID:: 892895
•Concept ID:: C4073181
•: Finding

HPO:	HP:0045060

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/hypoplasia involving bones of the extremities

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Aplasia/hypoplasia involving bones of the extremities

Recent clinical studies

Etiology

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356 Free PMC Article

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV
Clin Genet 2005 Oct;68(4):302-19. doi: 10.1111/j.1399-0004.2005.00508.x. PMID: 16143015

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