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Abnormal posterior cranial fossa morphology

MedGen UID:
482398
Concept ID:
C3280768
Anatomical Abnormality; Finding
Synonym: Abnormality of the posterior cranial fossa
 
HPO: HP:0000932

Definition

An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. [from HPO]

Conditions with this feature

Oromandibular-limb hypogenesis spectrum
MedGen UID:
66357
Concept ID:
C0221060
Disease or Syndrome
The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings.
Isotretinoin-like syndrome
MedGen UID:
96600
Concept ID:
C0432364
Disease or Syndrome
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out.
Meckel syndrome, type 9
MedGen UID:
481785
Concept ID:
C3280155
Disease or Syndrome
Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).

Professional guidelines

PubMed

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Kau T, Marterer R, Kottke R, Birnbacher R, Gellen J, Nagy E, Boltshauser E
Clin Neuroradiol 2020 Sep;30(3):435-445. Epub 2020 Jan 15 doi: 10.1007/s00062-019-00871-4. PMID: 31942658
Poretti A, Ashmawy R, Garzon-Muvdi T, Jallo GI, Huisman TA, Raybaud C
Neuropediatrics 2016 Oct;47(5):293-307. Epub 2016 Jun 23 doi: 10.1055/s-0036-1584563. PMID: 27337547

Recent clinical studies

Etiology

Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Alabaster K, Fred Bugg M, Splavski B, Boop FA, Arnautovic KI
J Neurosurg 2018 Jan;128(1):165-173. Epub 2017 Apr 14 doi: 10.3171/2016.10.JNS162161. PMID: 28409726
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R
Neuroradiol J 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. PMID: 26246090Free PMC Article
Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A
Radiographics 2015 Jan-Feb;35(1):200-20. doi: 10.1148/rg.351140038. PMID: 25590398
Williams Z, Herrick MK, Tse V
Clin Neuropathol 2000 May-Jun;19(3):138-41. PMID: 14606587

Diagnosis

Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Coll G, Abed Rabbo F, Jecko V, Sakka L, Di Rocco F, Delion M
Neurochirurgie 2019 Nov;65(5):221-227. Epub 2019 Sep 23 doi: 10.1016/j.neuchi.2019.09.005. PMID: 31557489
Cotes C, Bonfante E, Lazor J, Jadhav S, Caldas M, Swischuk L, Riascos R
Neuroradiol J 2015 Jun;28(3):238-53. doi: 10.1177/1971400915576665. PMID: 26246090Free PMC Article
Shekdar K
Semin Ultrasound CT MR 2011 Jun;32(3):228-41. doi: 10.1053/j.sult.2011.02.003. PMID: 21596278
Puttgen KB, Lin DD
Childs Nerv Syst 2010 Oct;26(10):1407-15. Epub 2010 Jun 27 doi: 10.1007/s00381-010-1201-3. PMID: 20582592

Therapy

Magro E, Darsaut TE, Mezui EDO, Bojanowski MW, Ziegler D, Gentric JC, Roy D, Raymond J
Acta Neurochir (Wien) 2020 Apr;162(4):905-910. Epub 2020 Feb 18 doi: 10.1007/s00701-020-04260-6. PMID: 32067118
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Stein KP, Wanke I, Schlamann M, Dammann P, Moldovan AS, Zhu Y, Sure U, Sandalcioglu IE
Neurosurg Rev 2014 Oct;37(4):619-28. Epub 2014 May 9 doi: 10.1007/s10143-014-0551-9. PMID: 24811220
Koutourousiou M, Filho FV, Costacou T, Fernandez-Miranda JC, Wang EW, Snyderman CH, Rothfus WE, Gardner PA
J Neurosurg 2014 Aug;121(2):359-66. Epub 2014 Feb 7 doi: 10.3171/2013.12.JNS13756. PMID: 24506240
West J Med 1974 Sep;121(3):207-19. PMID: 4606285Free PMC Article

Prognosis

Society for Maternal-Fetal Medicine (SMFM), Post A, Norton ME, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B47-B50. doi: 10.1016/j.ajog.2020.08.187. PMID: 33757627
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
Bosemani T, Orman G, Boltshauser E, Tekes A, Huisman TA, Poretti A
Radiographics 2015 Jan-Feb;35(1):200-20. doi: 10.1148/rg.351140038. PMID: 25590398
Spennato P, Mirone G, Nastro A, Buonocore MC, Ruggiero C, Trischitta V, Aliberti F, Cinalli G
Childs Nerv Syst 2011 Oct;27(10):1665-81. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1544-4. PMID: 21928031
Parmeggiani A, Posar A, Scaduto MC, Chiodo S, Santucci M, Rossi PG
J Child Neurol 1999 Feb;14(2):113-7. doi: 10.1177/088307389901400209. PMID: 10073433

Clinical prediction guides

Shrestha B , Paudel RC , Kashichhawa S , Maharjan N
Kathmandu Univ Med J (KUMJ) 2022 Jul-Sep;20(79):342-345. PMID: 37042377
Wang C, Lockwood J, Iwanaga J, Dumont AS, Bui CJ, Tubbs RS
Neurosurg Rev 2021 Jun;44(3):1255-1258. Epub 2020 Jun 7 doi: 10.1007/s10143-020-01329-9. PMID: 32507931
Kunc V, Fabik J, Kubickova B, Kachlik D
Ann Anat 2020 May;229:151458. Epub 2020 Jan 31 doi: 10.1016/j.aanat.2020.151458. PMID: 32014471
Buell TJ, Heiss JD, Oldfield EH
Neurosurg Clin N Am 2015 Oct;26(4):495-9. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.003. PMID: 26408057Free PMC Article
Parmeggiani A, Posar A, Scaduto MC, Chiodo S, Santucci M, Rossi PG
J Child Neurol 1999 Feb;14(2):113-7. doi: 10.1177/088307389901400209. PMID: 10073433

Recent systematic reviews

Jankovic D, Vuong K, Splavski B, Rotim K, Arnautovic KI
World Neurosurg 2023 May;173:48-62. Epub 2023 Feb 22 doi: 10.1016/j.wneu.2023.02.071. PMID: 36822402
Jankovic D, Hanissian A, Rotim K, Splavski B, Arnautovic KI
World Neurosurg 2022 Feb;158:1-10. Epub 2021 Oct 21 doi: 10.1016/j.wneu.2021.10.105. PMID: 34687932
Magro E, Darsaut TE, Mezui EDO, Bojanowski MW, Ziegler D, Gentric JC, Roy D, Raymond J
Acta Neurochir (Wien) 2020 Apr;162(4):905-910. Epub 2020 Feb 18 doi: 10.1007/s00701-020-04260-6. PMID: 32067118
Chai Z, Xue X, Fan H, Sun L, Cai H, Ma Y, Ma C, Zhou R
World Neurosurg 2018 May;113:357-365.e1. Epub 2018 Feb 23 doi: 10.1016/j.wneu.2018.02.092. PMID: 29482005
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jul;48(1):28-37. doi: 10.1002/uog.15755. PMID: 26394557

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