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Ulnar hemimelia

MedGen UID:
539346
•Concept ID:
C0265583
•
Congenital Abnormality
Synonyms: Congenital longitudinal deficiency of the ulna; congenital longitudinal deficiency of the ulna; Longitudinal deficiency of ulna; Longitudinal reduction defect of ulna; Ulnar clubhand; ulnar clubhand; ulnar hemimelia; ulnar longitudinal meromelia; Ulnar longitudinal meromelia
SNOMED CT: Longitudinal reduction defect of ulna (44444001); Longitudinal deficiency of ulna (44444001)
 
Monarch Initiative: MONDO:0019670
Orphanet: ORPHA93320

Definition

A rare congenital limb malformation characterized by complete or partial absence of the ulna. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUlnar hemimelia

Recent clinical studies

Etiology

Toe-to-Hand Transfer in an Ulnar Hemimelia Patient: A Case Report.
Sönmez E, Aksam E
Ann Plast Surg 2019 Oct;83(4):436-438. doi: 10.1097/SAP.0000000000002011. PMID: 31524738

Diagnosis

Ulnar hemimelia: a report of four cases.
Özdemir M, Turan A, Kavak RP
Skeletal Radiol 2019 Jul;48(7):1137-1143. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3167-x. PMID: 30712123
Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.
Pfeiffer RA, Correll J
Am J Med Genet 1993 Nov 15;47(7):1014-7. doi: 10.1002/ajmg.1320470715. PMID: 8291514

Prognosis

Toe-to-Hand Transfer in an Ulnar Hemimelia Patient: A Case Report.
Sönmez E, Aksam E
Ann Plast Surg 2019 Oct;83(4):436-438. doi: 10.1097/SAP.0000000000002011. PMID: 31524738

Clinical prediction guides

Ulnar hemimelia: a report of four cases.
Özdemir M, Turan A, Kavak RP
Skeletal Radiol 2019 Jul;48(7):1137-1143. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3167-x. PMID: 30712123
Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.
Pfeiffer RA, Correll J
Am J Med Genet 1993 Nov 15;47(7):1014-7. doi: 10.1002/ajmg.1320470715. PMID: 8291514

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