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Aplasia/Hypoplasia of the vertebrae

MedGen UID:: 870225
•Concept ID:: C4024662
•: Anatomical Abnormality

Synonyms:	Absent/small vertebrae; Absent/underdeveloped vertebrae

HPO:	HP:0008515

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the vertebrae

Abnormality of the musculoskeletal system
- Abnormality of the skeletal system
  - Abnormal skeletal morphology
    - Abnormal axial skeleton morphology
      - Aplasia/hypoplasia affecting bones of the axial skeleton
        Aplasia/Hypoplasia involving the vertebral column
        Aplasia/Hypoplasia of the vertebrae
        Absent vertebra
        Absent cervical vertebra
        Absent thoracic vertebra
        Vertebral hypoplasia
        Central vertebral hypoplasia
        Hypoplastic 5th lumbar vertebrae
        Hypoplastic coccygeal vertebrae
        Hypoplastic sacral vertebrae
        Hypoplastic vertebral bodies
        Narrow anterio-posterior vertebral body diameter
        Small cervical vertebral bodies
        Posterior vertebral hypoplasia

Recent clinical studies

Etiology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727

Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome.

Raziel A, Friedler S, Gidoni Y, Ben Ami I, Strassburger D, Ron-El R
Hum Reprod 2012 Jan;27(1):126-30. Epub 2011 Nov 3 doi: 10.1093/humrep/der356. PMID: 22052385

See all (2)

Diagnosis

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).

Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.

Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675

Congenital anomalies of the odontoid process.

Hensinger RN, Fielding JW, Hawkins RJ
Orthop Clin North Am 1978 Oct;9(4):901-12. PMID: 740383

See all (4)

Therapy

The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.

Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC
J Pediatr 1979 Sep;95(3):399-402. doi: 10.1016/s0022-3476(79)80514-4. PMID: 469663

See all (1)

Prognosis

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.

Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675

Surrogate in vitro fertilization outcome in typical and atypical forms of Mayer-Rokitansky-Kuster-Hauser syndrome.

Raziel A, Friedler S, Gidoni Y, Ben Ami I, Strassburger D, Ron-El R
Hum Reprod 2012 Jan;27(1):126-30. Epub 2011 Nov 3 doi: 10.1093/humrep/der356. PMID: 22052385

See all (2)

Clinical prediction guides

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.

Demirel F, Kara O, Esen I
J Pediatr Endocrinol Metab 2012;25(3-4):383-6. doi: 10.1515/jpem-2011-0493. PMID: 22768675

See all (1)

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Aplasia/Hypoplasia of the vertebrae

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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