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Midline cervical cleft

MedGen UID:
1374384
•Concept ID:
C4479645
•
Congenital Abnormality
Synonym: Midline brainstem cleft
SNOMED CT: Midline cervical cleft (403557001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
HPO: HP:0033645
Monarch Initiative: MONDO:0015419
Orphanet: ORPHA141288

Definition

A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMidline cervical cleft

Conditions with this feature

Gaze palsy, familial horizontal, with progressive scoliosis, 2
MedGen UID:
1393733
•Concept ID:
C4479640
•
Disease or Syndrome
See: Condition Record
Gaze palsy, familial horizontal, with progressive scoliosis, 2

Recent clinical studies

Etiology

Surgical management of midline cervical cleft.
D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Congenital midline cervical cleft: A retrospective case series of 8 children.
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Management of congenital midline cervical cleft.
McInnes CW, Benson AD, Verchere CG, Ludemann JP, Arneja JS
J Craniofac Surg 2012 Jan;23(1):e36-8. doi: 10.1097/SCS.0b013e318241db99. PMID: 22337458
Congenital midline cervical cleft.
Bergevin MA, Sheft S, Myer C 3rd, McAdams AJ
Pediatr Pathol 1989;9(6):731-9. doi: 10.3109/15513818909022380. PMID: 2602229

Diagnosis

Surgical management of midline cervical cleft.
D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Craniofacial Morphology in Midline Cervical Cleft: Case Report and Review of Literature.
Cudzilo D, Matthews-Brzozowska T, Obloj B
Cleft Palate Craniofac J 2017 Mar;54(2):235-241. Epub 2015 Sep 29 doi: 10.1597/15-126. PMID: 26418149
Congenital midline cervical cleft.
Villanueva-Meyer J, Glastonbury C, Marcovici P
J Radiol Case Rep 2015 Mar;9(3):7-11. Epub 2015 Mar 31 doi: 10.3941/jrcr.v9i3.2202. PMID: 25926928Free PMC Article
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Management of congenital midline cervical cleft.
McInnes CW, Benson AD, Verchere CG, Ludemann JP, Arneja JS
J Craniofac Surg 2012 Jan;23(1):e36-8. doi: 10.1097/SCS.0b013e318241db99. PMID: 22337458

Therapy

Surgical management of midline cervical cleft.
D'Souza JN, Valika T, Maddalozzo J
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109657. Epub 2019 Aug 23 doi: 10.1016/j.ijporl.2019.109657. PMID: 31491734
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555

Prognosis

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.
Masood MM, Mieczkowski P, Malc EP, Foreman AKM, Evans JP, Clark JM, Rose AS
Ann Otol Rhinol Laryngol 2020 Jul;129(7):653-656. Epub 2020 Feb 6 doi: 10.1177/0003489420906180. PMID: 32028786
Congenital midline cervical cleft: A retrospective case series of 8 children.
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J
Otolaryngol Clin North Am 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. PMID: 25439555
Management of congenital midline cervical cleft.
McInnes CW, Benson AD, Verchere CG, Ludemann JP, Arneja JS
J Craniofac Surg 2012 Jan;23(1):e36-8. doi: 10.1097/SCS.0b013e318241db99. PMID: 22337458
Congenital midline cervical cleft.
Bergevin MA, Sheft S, Myer C 3rd, McAdams AJ
Pediatr Pathol 1989;9(6):731-9. doi: 10.3109/15513818909022380. PMID: 2602229

Clinical prediction guides

Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.
Masood MM, Mieczkowski P, Malc EP, Foreman AKM, Evans JP, Clark JM, Rose AS
Ann Otol Rhinol Laryngol 2020 Jul;129(7):653-656. Epub 2020 Feb 6 doi: 10.1177/0003489420906180. PMID: 32028786
Congenital midline cervical cleft: A retrospective case series of 8 children.
Achard S, Leroy X, Fayoux P
Int J Pediatr Otorhinolaryngol 2016 Feb;81:60-4. Epub 2015 Dec 29 doi: 10.1016/j.ijporl.2015.12.008. PMID: 26810292
Congenital midline cervical cleft: a report of two cases.
Franzese C, Hayes JD, Nichols K
Ear Nose Throat J 2008 Mar;87(3):166-8. PMID: 18404916

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