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Acrania

MedGen UID:
147316
Concept ID:
C0702169
Congenital Abnormality
Synonym: Acranias
SNOMED CT: Acrania (203923004)
 
HPO: HP:0030716

Definition

Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. [from HPO]

Conditions with this feature

Genitourinary and/or brain malformation syndrome
MedGen UID:
1720440
Concept ID:
C5394158
Disease or Syndrome
Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).

Recent clinical studies

Etiology

Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
Wertaschnigg D, Reddy M, Ramkrishna J, da Silva Costa F, Sepulveda W, Rolnik DL, Meagher S
J Ultrasound Med 2020 Sep;39(9):1695-1700. Epub 2020 Mar 10 doi: 10.1002/jum.15267. PMID: 32154944
Wegrzyn P, Brawura-Biskupski-Samaha R, Borowski D, Górski A, Wielgoś M
Ginekol Pol 2013 Dec;84(12):1055-8. doi: 10.17772/gp/1680. PMID: 24505955
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156
Liu IF, Chang CH, Yu CH, Cheng YC, Chang FM
Ultrasound Med Biol 2005 Feb;31(2):175-8. doi: 10.1016/j.ultrasmedbio.2004.10.005. PMID: 15708455

Diagnosis

Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
Wertaschnigg D, Reddy M, Ramkrishna J, da Silva Costa F, Sepulveda W, Rolnik DL, Meagher S
J Ultrasound Med 2020 Sep;39(9):1695-1700. Epub 2020 Mar 10 doi: 10.1002/jum.15267. PMID: 32154944
Sepulveda W, De La Maza F, Meagher S
J Ultrasound Med 2020 Apr;39(4):829-832. Epub 2019 Nov 9 doi: 10.1002/jum.15161. PMID: 31705673
Meadows JT Jr, Hayes D Jr
Pediatr Neurol 2014 Jul;51(1):123-5. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.019. PMID: 24814060
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156

Therapy

Jakobiec FA, Syed ZA, Stagner AM, Harris GJ, Rootman J, Yoon MK, Mombaerts I
Am J Ophthalmol 2016 Jun;166:91-102. Epub 2016 Mar 31 doi: 10.1016/j.ajo.2016.03.029. PMID: 27038895
Karlsson G, Francis G, Koren G, Heining P, Zhang X, Cohen JA, Kappos L, Collins W
Neurology 2014 Feb 25;82(8):674-80. Epub 2014 Jan 24 doi: 10.1212/WNL.0000000000000137. PMID: 24463630Free PMC Article
Ho V, Keating S, Kingdom J, Shannon P
Am J Surg Pathol 2007 Dec;31(12):1893-6. doi: 10.1097/PAS.0b013e318093e3e2. PMID: 18043045
Rajapakse RO, Korelitz BI, Zlatanic J, Baiocco PJ, Gleim GW
Am J Gastroenterol 2000 Mar;95(3):684-8. doi: 10.1111/j.1572-0241.2000.01846.x. PMID: 10710057
Zhao Q, Behringer RR, de Crombrugghe B
Nat Genet 1996 Jul;13(3):275-83. doi: 10.1038/ng0796-275. PMID: 8673125

Prognosis

Sepulveda W, De La Maza F, Meagher S
J Ultrasound Med 2020 Apr;39(4):829-832. Epub 2019 Nov 9 doi: 10.1002/jum.15161. PMID: 31705673
Meadows JT Jr, Hayes D Jr
Pediatr Neurol 2014 Jul;51(1):123-5. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.019. PMID: 24814060
Wegrzyn P, Brawura-Biskupski-Samaha R, Borowski D, Górski A, Wielgoś M
Ginekol Pol 2013 Dec;84(12):1055-8. doi: 10.17772/gp/1680. PMID: 24505955
Tonni G, Centini G, Bonasoni MP, Ventura A, Pattacini P, Cavalli P
Fetal Pediatr Pathol 2012 Dec;31(6):379-87. Epub 2012 Mar 23 doi: 10.3109/15513815.2012.659403. PMID: 22443204
Kurata H, Tamaki N, Sawa H, Oi S, Katayama K, Mochizuki M, Uetani Y, Yokoyama N, Nakamura H
Pediatr Neurosurg 1996;24(1):52-4. doi: 10.1159/000121015. PMID: 8817616

Clinical prediction guides

Szkodziak P, Krzyżanowski J, Krzyżanowski A, Szkodziak F, Woźniak S, Czuczwar P, Kwaśniewska A, Paszkowski T
Arch Gynecol Obstet 2020 Sep;302(3):619-628. Epub 2020 Jun 15 doi: 10.1007/s00404-020-05650-y. PMID: 32556516Free PMC Article
Petousis S, Sotiriadis A, Margioula-Siarkou C, Tsakiridis I, Christidis P, Kyriakakis M, Mamopoulos A, Athanasiadis A, Dagklis T
J Matern Fetal Neonatal Med 2020 Aug;33(15):2581-2587. Epub 2019 Jan 7 doi: 10.1080/14767058.2018.1555807. PMID: 30612473
Gazolla AC, da Cunha AC, Telles JA, Betat Rda S, Romano MA, Marshall I, Gobatto AM, de H Bicca AM, Arcolini CP, Dal Pai TK, Vieira LR, Targa LV, Betineli I, Zen PR, Rosa RF
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):739-49. Epub 2014 Jun 27 doi: 10.1002/bdra.23266. PMID: 24975578
Gorgal R, Ramalho C, Brandão O, Matias A, Montenegro N
Fetal Diagn Ther 2011;29(2):166-70. Epub 2010 Dec 11 doi: 10.1159/000320735. PMID: 21150156
Utkus A, Kazakevicius R, Ptasekas R, Kucinskas V, Beckwith JB, Opitz JM
Am J Med Genet 2001 Jun 15;101(2):163-71. doi: 10.1002/ajmg.1320. PMID: 11391661

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