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Duplication involving bones of the feet

MedGen UID:
870146
Concept ID:
C4024578
Anatomical Abnormality
HPO: HP:0009136

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuplication involving bones of the feet

Conditions with this feature

Absence deformity of leg-cataract syndrome
MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.

Recent clinical studies

Etiology

Ishigaki T, Akita S, Udagawa A, Suzuki H, Mitsukawa N
J Orthop Sci 2023 Mar;28(2):426-431. Epub 2021 Dec 16 doi: 10.1016/j.jos.2021.11.013. PMID: 34922808
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680

Diagnosis

Sherer DM, Hsieh V, Kheyman M, Field A, Dalloul M
J Clin Ultrasound 2021 Jul;49(6):622-624. Epub 2021 Mar 28 doi: 10.1002/jcu.23007. PMID: 33778969
Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW
BMC Med Genet 2019 Jun 14;20(1):108. doi: 10.1186/s12881-019-0839-2. PMID: 31200655Free PMC Article
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M
BMC Med Genomics 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. PMID: 30626445Free PMC Article
Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225
Ogden JA, Light TR, Conlogue GJ
Skeletal Radiol 1981;6(2):109-17. doi: 10.1007/BF00347572. PMID: 7256305

Therapy

Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225

Prognosis

Boyle MJ, Hogue GD, Kasser JR
J Pediatr Orthop 2016 Sep;36(6):e66-70. doi: 10.1097/BPO.0000000000000635. PMID: 26296225

Clinical prediction guides

Ishigaki T, Akita S, Udagawa A, Suzuki H, Mitsukawa N
J Orthop Sci 2023 Mar;28(2):426-431. Epub 2021 Dec 16 doi: 10.1016/j.jos.2021.11.013. PMID: 34922808
Monzani A, Babu D, Mellone S, Genoni G, Fanelli A, Prodam F, Bellone S, Giordano M
BMC Med Genomics 2019 Jan 9;12(1):5. doi: 10.1186/s12920-018-0445-8. PMID: 30626445Free PMC Article
Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N
Am J Med Genet A 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. PMID: 16222680

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