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Vertical clivus

MedGen UID:
336757
Concept ID:
C1844702
Finding
HPO: HP:0010559

Definition

An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). [from HPO]

Conditions with this feature

Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Professional guidelines

PubMed

Lloyd MS, Rodrigues D, Nishikawa H, White N, Solanki G, Noons P, Evans M, Dover S
J Craniofac Surg 2016 Jun;27(4):871-3. doi: 10.1097/SCS.0000000000002559. PMID: 27152571
Croft RS, Buschang PH, English JD, Meyer R
Am J Orthod Dentofacial Orthop 1999 Oct;116(4):435-43. doi: 10.1016/s0889-5406(99)70230-1. PMID: 10511673
Agronin KJ, Kokich VG
Am J Orthod Dentofacial Orthop 1987 Jan;91(1):42-8. doi: 10.1016/0889-5406(87)90207-1. PMID: 3467579

Recent clinical studies

Etiology

Filho ÍTO, Botelho RV
Neurosurg Rev 2023 Dec 2;46(1):322. doi: 10.1007/s10143-023-02227-6. PMID: 38040961
Gjørup H, Jacobsen PE, Hald JD, Haubek D
Orthod Craniofac Res 2023 May;26(2):248-255. Epub 2022 Sep 8 doi: 10.1111/ocr.12607. PMID: 36054241
Kang YJ, Lee IH, Kim SW, Kim DH
Medicina (Kaunas) 2022 Oct 18;58(10) doi: 10.3390/medicina58101479. PMID: 36295639Free PMC Article
Kong G, Ji W, Lin J, Liu Q, Huang Z, Zhu Q
World Neurosurg 2019 Jun;126:e1005-e1011. Epub 2019 Mar 12 doi: 10.1016/j.wneu.2019.03.021. PMID: 30877008
Magnusson M, Kahlon B, Karlberg M, Lindberg S, Siesjö P, Tjernström F
Ann N Y Acad Sci 2009 May;1164:257-62. doi: 10.1111/j.1749-6632.2009.03778.x. PMID: 19645909

Diagnosis

Volpe P, De Robertis R, Fanelli T, Boito S, Volpe G, Votino C, Persico N, Chaoui R
Ultrasound Obstet Gynecol 2022 Jan;59(1):49-54. doi: 10.1002/uog.23697. PMID: 34125985
Duan W, Du Y, Qi T, Jiang B, Wang K, Liu Z, Guan J, Wang X, Wu H, Chen Z, Jian F
World Neurosurg 2019 Dec;132:e324-e332. Epub 2019 Aug 30 doi: 10.1016/j.wneu.2019.08.160. PMID: 31476460
Gross AW, Vickers A, Lee AG, Chen JJ, Bhatti MT
Surv Ophthalmol 2019 Nov-Dec;64(6):884-890. Epub 2018 Oct 30 doi: 10.1016/j.survophthal.2018.10.006. PMID: 30385270
Caspersen LM, Kjaer I, Sonnesen L
Orthod Craniofac Res 2010 Aug;13(3):162-8. doi: 10.1111/j.1601-6343.2010.01492.x. PMID: 20618718
Halmagyi GM, Gresty MA
J Neurol Neurosurg Psychiatry 1979 Oct;42(10):934-9. doi: 10.1136/jnnp.42.10.934. PMID: 315999Free PMC Article

Therapy

Mantokoudis G, Saber Tehrani AS, Wong AL, Agrawal Y, Wenzel A, Carey JP
Otol Neurotol 2016 Oct;37(9):1399-405. doi: 10.1097/MAO.0000000000001196. PMID: 27556420Free PMC Article
Hermann EJ, Petrakakis I, Polemikos M, Raab P, Cinibulak Z, Nakamura M, Krauss JK
Acta Neurochir (Wien) 2015 Jul;157(7):1229-37. Epub 2015 May 21 doi: 10.1007/s00701-015-2452-2. PMID: 25990847
Magnusson M, Karlberg M, Tjernström F
NeuroRehabilitation 2011;29(2):153-6. doi: 10.3233/NRE-2011-0689. PMID: 22027076
Cevidanes LH, Franco AA, Gerig G, Proffit WR, Slice DE, Enlow DH, Yamashita HK, Kim YJ, Scanavini MA, Vigorito JW
Am J Orthod Dentofacial Orthop 2005 Jul;128(1):16-26. doi: 10.1016/j.ajodo.2004.03.032. PMID: 16027621
Jian XC, Liu JP
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003 Feb;95(2):156-62. doi: 10.1067/moe.2003.41. PMID: 12582354

Prognosis

Kong G, Ji W, Lin J, Liu Q, Huang Z, Zhu Q
World Neurosurg 2019 Jun;126:e1005-e1011. Epub 2019 Mar 12 doi: 10.1016/j.wneu.2019.03.021. PMID: 30877008
Arístegui M, Martín-Oviedo C, Aristegui I, García-Leal R, Ruiz-Juretschke F
Anat Rec (Hoboken) 2019 Apr;302(4):588-598. Epub 2018 Nov 22 doi: 10.1002/ar.23923. PMID: 30312014
Revuelta Barbero JM, Subramaniam S, Noiphithak R, Yanez-Siller JC, Otto BA, Carrau RL, Prevedello DM
Oper Neurosurg (Hagerstown) 2019 Jun 1;16(6):743-749. doi: 10.1093/ons/opy275. PMID: 30257011
Oh E, Ahn SJ, Sonnesen L
Angle Orthod 2018 May;88(3):283-291. Epub 2018 Jan 16 doi: 10.2319/083017-584.1. PMID: 29337630Free PMC Article
Fukuda H, Evins AI, Burrell JC, Stieg PE, Bernardo A
World Neurosurg 2014 Sep-Oct;82(3-4):e459-65. Epub 2013 Sep 18 doi: 10.1016/j.wneu.2013.09.015. PMID: 24055568

Clinical prediction guides

Wahl L, Iwanaga J, Chabot AB, Dumont AS, Tubbs RS
Kurume Med J 2022 Mar 11;67(1):49-52. Epub 2022 Jan 31 doi: 10.2739/kurumemedj.MS671009. PMID: 35095020
Zhou S, Yuan B, Liu W, Tang Y, Chen X, Jia L
BMC Surg 2021 Aug 12;21(1):324. doi: 10.1186/s12893-021-01321-0. PMID: 34384414Free PMC Article
Duan W, Du Y, Qi T, Jiang B, Wang K, Liu Z, Guan J, Wang X, Wu H, Chen Z, Jian F
World Neurosurg 2019 Dec;132:e324-e332. Epub 2019 Aug 30 doi: 10.1016/j.wneu.2019.08.160. PMID: 31476460
Oh E, Ahn SJ, Sonnesen L
Angle Orthod 2018 May;88(3):283-291. Epub 2018 Jan 16 doi: 10.2319/083017-584.1. PMID: 29337630Free PMC Article
Tubbs RS, Griessenauer CJ, Loukas M, Zurada A, Shoja MM, Cohen-Gadol AA
Childs Nerv Syst 2010 Sep;26(9):1207-10. Epub 2010 Mar 6 doi: 10.1007/s00381-010-1100-7. PMID: 20213190

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