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Cranial malformation

MedGen UID:
1842358
•Concept ID:
C5681508
•
Congenital Abnormality
Orphanet: ORPHA98038

Professional guidelines

PubMed

Three-dimensional study of 31 cases of synostotic anterior plagiocephaly before and after surgical management the Lille protocol.
Simon A, Bocquet E, Pellerin P, Vinchon M, Dhellemmes P, Martinot V, Wolber A, Calibre C, Charlier P, Guerreschi P
J Craniomaxillofac Surg 2018 Jun;46(6):958-966. Epub 2018 Mar 28 doi: 10.1016/j.jcms.2018.03.014. PMID: 29661661

Recent clinical studies

Etiology

Wound Healing Complications After Cranial Vault Reconstruction for Craniosynostosis.
Kugar M, Strassle P, Elkins-Williams T, Garimella R, Pham M, Elton S, van Aalst J, Wood J
J Craniofac Surg 2020 Jan/Feb;31(1):110-112. doi: 10.1097/SCS.0000000000005937. PMID: 31652214
Identification and Management of Cranial Anomalies in Perinatology.
Vargo JD, Hasan A, Andrews BT
Clin Perinatol 2018 Dec;45(4):699-715. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.008. PMID: 30396413
Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.
Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V
Genet Med 2014 Apr;16(4):302-10. Epub 2013 Sep 26 doi: 10.1038/gim.2013.134. PMID: 24071792Free PMC Article
Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.
Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B, Lituania M
Arch Gynecol Obstet 2011 Apr;283(4):909-16. Epub 2010 Sep 2 doi: 10.1007/s00404-010-1643-6. PMID: 20811900
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
Al Kaissi A, Ben Chehida F, Gharbi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K
Eur Spine J 2007 Dec;16 Suppl 3(Suppl 3):265-70. Epub 2007 Jan 24 doi: 10.1007/s00586-006-0297-3. PMID: 17245565Free PMC Article

Diagnosis

Identification and Management of Cranial Anomalies in Perinatology.
Vargo JD, Hasan A, Andrews BT
Clin Perinatol 2018 Dec;45(4):699-715. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.008. PMID: 30396413
Three-dimensional study of 31 cases of synostotic anterior plagiocephaly before and after surgical management the Lille protocol.
Simon A, Bocquet E, Pellerin P, Vinchon M, Dhellemmes P, Martinot V, Wolber A, Calibre C, Charlier P, Guerreschi P
J Craniomaxillofac Surg 2018 Jun;46(6):958-966. Epub 2018 Mar 28 doi: 10.1016/j.jcms.2018.03.014. PMID: 29661661
Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.
Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B, Lituania M
Arch Gynecol Obstet 2011 Apr;283(4):909-16. Epub 2010 Sep 2 doi: 10.1007/s00404-010-1643-6. PMID: 20811900
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
Al Kaissi A, Ben Chehida F, Gharbi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K
Eur Spine J 2007 Dec;16 Suppl 3(Suppl 3):265-70. Epub 2007 Jan 24 doi: 10.1007/s00586-006-0297-3. PMID: 17245565Free PMC Article
Atelencephalic microcephaly in a 21-week human fetus.
Siebert JR, Warkany J, Lemire RJ
Teratology 1986 Aug;34(1):9-19. doi: 10.1002/tera.1420340103. PMID: 3764783

Prognosis

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.
Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V
Genet Med 2014 Apr;16(4):302-10. Epub 2013 Sep 26 doi: 10.1038/gim.2013.134. PMID: 24071792Free PMC Article
Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.
Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B, Lituania M
Arch Gynecol Obstet 2011 Apr;283(4):909-16. Epub 2010 Sep 2 doi: 10.1007/s00404-010-1643-6. PMID: 20811900
Trigonocephaly associated with anterior basal meningocele. Case report.
Maggi G, Petrone G, Aliberti F, Ruggiero C
J Neurosurg Sci 1995 Sep;39(3):177-80. PMID: 8965126
The Kleeblattschädel anomaly.
Eaton AP, Sommer A, Sayers MP
Birth Defects Orig Artic Ser 1975;11(2):238-46. PMID: 1227527

Clinical prediction guides

Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
Al Kaissi A, Ben Chehida F, Gharbi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K
Eur Spine J 2007 Dec;16 Suppl 3(Suppl 3):265-70. Epub 2007 Jan 24 doi: 10.1007/s00586-006-0297-3. PMID: 17245565Free PMC Article
Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants?
Sainte-Rose C, LaCombe J, Pierre-Kahn A, Renier D, Hirsch JF
J Neurosurg 1984 Apr;60(4):727-36. doi: 10.3171/jns.1984.60.4.0727. PMID: 6707742

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