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Aplasia/Hypoplasia of the cervical spine

MedGen UID:: 869156
•Concept ID:: C4023576
•: Anatomical Abnormality

Synonyms:	Absent/small cervical spine; Absent/underdeveloped cervical spine

HPO:	HP:0011041

Definition

Aplasia or developmental hypoplasia of the cervical vertebral column. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the cervical spine

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal axial skeleton morphology
    - Abnormality of the vertebral column
      - Abnormal vertebral morphology
        Abnormal cervical spine morphology
        Aplasia/Hypoplasia of the cervical spine
        Cervical vertebral facet hypoplasia
        Congenital absence of cervical vertebra
        Hypoplastic cervical vertebrae

Recent clinical studies

Diagnosis

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

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

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

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

Supplemental Content

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Clinical resources

ClinicalTrials.gov

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Aplasia/Hypoplasia of the cervical spine
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