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Craniocervical junction constriction

MedGen UID:
1054811
Concept ID:
CN378272
Finding
Synonyms: Tight craniocervical junction; Tight craniovertebral junction
 
HPO: HP:6000920

Definition

Congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These malformations can lead to cranial nerve compression, vertebral artery compression, and obstructive hydrocephalus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniocervical junction constriction

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.

Recent clinical studies

Etiology

Zhang CH, D'Arco F, Borghi A, Picariello S, Cheung M, Irving M, Thompson D
Childs Nerv Syst 2023 Dec;39(12):3491-3499. Epub 2023 Jun 15 doi: 10.1007/s00381-023-06005-z. PMID: 37322357
Jenko N, Connolly DJA, Raghavan A, Fernandes JA, Ushewokunze S, Elphick HE, Arundel P, Alhun U, Offiah AC
Pediatr Radiol 2022 Jul;52(8):1512-1520. Epub 2022 Apr 9 doi: 10.1007/s00247-022-05348-0. PMID: 35396670Free PMC Article
Okenfuss E, Moghaddam B, Avins AL
Am J Med Genet A 2020 Nov;182(11):2540-2551. Epub 2020 Aug 31 doi: 10.1002/ajmg.a.61825. PMID: 32864841
Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A
Dev Med Child Neurol 2014 Nov;56(11):1085-92. Epub 2014 May 14 doi: 10.1111/dmcn.12492. PMID: 24825324Free PMC Article
Scutellari PN, Orzincolo C
Eur J Radiol 1998 May;27 Suppl 1:S31-8. doi: 10.1016/s0720-048x(98)00040-0. PMID: 9652499

Diagnosis

Okenfuss E, Moghaddam B, Avins AL
Am J Med Genet A 2020 Nov;182(11):2540-2551. Epub 2020 Aug 31 doi: 10.1002/ajmg.a.61825. PMID: 32864841
Lofrese G, De Iure F F, Cappuccio M, Amendola L
Spine (Phila Pa 1976) 2015 Sep 1;40(17):E992-5. doi: 10.1097/BRS.0000000000000946. PMID: 25909351
Zebian B, Hogg FR, Fu RZ, Sivakumaran R, Stapleton S
J Neurosurg Pediatr 2015 Jun;15(6):612-4. Epub 2015 Mar 27 doi: 10.3171/2014.11.PEDS14139. PMID: 25815634
Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A
Dev Med Child Neurol 2014 Nov;56(11):1085-92. Epub 2014 May 14 doi: 10.1111/dmcn.12492. PMID: 24825324Free PMC Article
Scutellari PN, Orzincolo C
Eur J Radiol 1998 May;27 Suppl 1:S31-8. doi: 10.1016/s0720-048x(98)00040-0. PMID: 9652499

Therapy

Jenko N, Connolly DJA, Raghavan A, Fernandes JA, Ushewokunze S, Elphick HE, Arundel P, Alhun U, Offiah AC
Pediatr Radiol 2022 Jul;52(8):1512-1520. Epub 2022 Apr 9 doi: 10.1007/s00247-022-05348-0. PMID: 35396670Free PMC Article
Dickerman RD, Lefkowitz M, Arinsburg SA, Schneider SJ
J Clin Neurosci 2005 Nov;12(8):963-6. Epub 2005 Oct 20 doi: 10.1016/j.jocn.2004.11.015. PMID: 16242933
Tubbs RS, Wellons JC 3rd, Oakes WJ, Blount JP
Pediatr Neurosurg 2003 Apr;38(4):219-21. doi: 10.1159/000069092. PMID: 12646743

Prognosis

Scutellari PN, Orzincolo C
Eur J Radiol 1998 May;27 Suppl 1:S31-8. doi: 10.1016/s0720-048x(98)00040-0. PMID: 9652499

Clinical prediction guides

Zhang CH, D'Arco F, Borghi A, Picariello S, Cheung M, Irving M, Thompson D
Childs Nerv Syst 2023 Dec;39(12):3491-3499. Epub 2023 Jun 15 doi: 10.1007/s00381-023-06005-z. PMID: 37322357
Jenko N, Connolly DJA, Raghavan A, Fernandes JA, Ushewokunze S, Elphick HE, Arundel P, Alhun U, Offiah AC
Pediatr Radiol 2022 Jul;52(8):1512-1520. Epub 2022 Apr 9 doi: 10.1007/s00247-022-05348-0. PMID: 35396670Free PMC Article
Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A
Dev Med Child Neurol 2014 Nov;56(11):1085-92. Epub 2014 May 14 doi: 10.1111/dmcn.12492. PMID: 24825324Free PMC Article
Jha RM, Klimo P, Smith ER
J Neurosurg Pediatr 2008 Aug;2(2):136-8. doi: 10.3171/PED/2008/2/8/136. PMID: 18671620

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