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Lumbosacral spina bifida cystica

MedGen UID:
799730
•Concept ID:
CN202432
•
Finding
Synonym: lumbosacral spina bifida cystica
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017072
Orphanet: ORPHA268758

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLumbosacral spina bifida cystica
Follow this link to review classifications for Lumbosacral spina bifida cystica in Orphanet.

Professional guidelines

PubMed

Spina bifida cystica. Results of treatment of 270 consecutive cases with criteria for selection for the future.
Lorber J
Arch Dis Child 1972 Dec;47(256):854-73. doi: 10.1136/adc.47.256.854. PMID: 4567074Free PMC Article

Recent clinical studies

Etiology

Measurement of the Area and Circumference of the Leg: Preliminary Results of a New Method for Estimating Leg Muscle Trophism in Fetuses With Open Lumbosacral Spina Bifida.
Milani HJF, de Sá Barreto EQ, Araujo Júnior E, Cavalheiro S, Barbosa MM, Moron AF
J Ultrasound Med 2022 Feb;41(2):377-388. Epub 2021 Apr 1 doi: 10.1002/jum.15715. PMID: 33792954
Incidence and type of foot deformities in patients with spina bifida according to level of lesion.
Gunay H, Sozbilen MC, Gurbuz Y, Altinisik M, Buyukata B
Childs Nerv Syst 2016 Feb;32(2):315-9. Epub 2015 Oct 30 doi: 10.1007/s00381-015-2944-7. PMID: 26518781
The horizontal sacrum as an indicator of the tethered spinal cord in spina bifida aperta and occulta.
Tubbs RS, Bui CJ, Loukas M, Shoja MM, Oakes WJ
Neurosurg Focus 2007;23(2):E11. doi: 10.3171/FOC-07/08/E2. PMID: 17961014
Spina bifida cystica: selective management in Zaria, Nigeria.
Shehu BB, Ameh EA, Ismail NJ
Ann Trop Paediatr 2000 Sep;20(3):239-42. doi: 10.1080/02724936.2000.11748142. PMID: 11064780
Soft tissue closure and plastic surgical aspects of large open myelomeningoceles.
Ramasastry SS, Cohen M
Neurosurg Clin N Am 1995 Apr;6(2):279-91. PMID: 7620354

Diagnosis

Measurement of the Area and Circumference of the Leg: Preliminary Results of a New Method for Estimating Leg Muscle Trophism in Fetuses With Open Lumbosacral Spina Bifida.
Milani HJF, de Sá Barreto EQ, Araujo Júnior E, Cavalheiro S, Barbosa MM, Moron AF
J Ultrasound Med 2022 Feb;41(2):377-388. Epub 2021 Apr 1 doi: 10.1002/jum.15715. PMID: 33792954
Impact of introduction of mid-trimester scan on pregnancy outcome of open spina bifida in The Netherlands.
Fleurke-Rozema JH, Vogel TA, Voskamp BJ, Pajkrt E, van den Berg PP, Beekhuis JR, Bilardo CM, Brouwer OF, de Walle HE, Snijders RJ
Ultrasound Obstet Gynecol 2014 May;43(5):553-6. Epub 2014 Feb 10 doi: 10.1002/uog.12546. PMID: 23828717
Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.
Chaoui R, Benoit B, Heling KS, Kagan KO, Pietzsch V, Sarut Lopez A, Tekesin I, Karl K
Ultrasound Obstet Gynecol 2011 Dec;38(6):722-6. Epub 2011 Nov 11 doi: 10.1002/uog.10111. PMID: 21984530
Prenatal diagnosis of open spina bifida by MRI and ultrasonography.
Nakahara T, Uozumi T, Monden S, Muttaqin Z, Kurisu K, Arita K, Kuwabara S, Ohama K, Kumagai M, Nakahara K
Brain Dev 1993 Jan-Feb;15(1):75-8. doi: 10.1016/0387-7604(93)90010-6. PMID: 8338214
Intraspinal epidermoid and dermoid cysts. Surgical results of seven cases.
Shikata J, Yamamuro T, Mikawa Y, Kotoura Y
Arch Orthop Trauma Surg (1978) 1988;107(2):105-9. doi: 10.1007/BF00454496. PMID: 3358665

Therapy

Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year.
Graf K, Kohl T, Neubauer BA, Dey F, Faas D, Wanis FA, Reinges MH, Uhl E, Kolodziej MA
Ultrasound Obstet Gynecol 2016 Feb;47(2):158-61. doi: 10.1002/uog.14937. PMID: 26138563
Pattern and factors affecting management outcome of spina bifida cystica in Ile-Ife, Nigeria.
Alatise OI, Adeolu AA, Komolafe EO, Adejuyigbe O, Sowande OA
Pediatr Neurosurg 2006;42(5):277-83. doi: 10.1159/000094062. PMID: 16902338
Contribution to the etiology of spina bifida cystica.
Sulla I, Fagula J, Magdo J, Vasko G, Vyrostko J
Zentralbl Neurochir 1984;45(3):179-82. PMID: 6391039

Prognosis

Intracranial infection in patients with myelomeningocele: profile and risk factors.
Anegbe AO, Shokunbi MT, Oyemolade TA, Badejo OA
Childs Nerv Syst 2019 Nov;35(11):2205-2210. Epub 2019 Jul 9 doi: 10.1007/s00381-019-04219-8. PMID: 31289854
Incidence and type of foot deformities in patients with spina bifida according to level of lesion.
Gunay H, Sozbilen MC, Gurbuz Y, Altinisik M, Buyukata B
Childs Nerv Syst 2016 Feb;32(2):315-9. Epub 2015 Oct 30 doi: 10.1007/s00381-015-2944-7. PMID: 26518781
Pattern and factors affecting management outcome of spina bifida cystica in Ile-Ife, Nigeria.
Alatise OI, Adeolu AA, Komolafe EO, Adejuyigbe O, Sowande OA
Pediatr Neurosurg 2006;42(5):277-83. doi: 10.1159/000094062. PMID: 16902338
Spina bifida cystica: selective management in Zaria, Nigeria.
Shehu BB, Ameh EA, Ismail NJ
Ann Trop Paediatr 2000 Sep;20(3):239-42. doi: 10.1080/02724936.2000.11748142. PMID: 11064780
Soft tissue closure and plastic surgical aspects of large open myelomeningoceles.
Ramasastry SS, Cohen M
Neurosurg Clin N Am 1995 Apr;6(2):279-91. PMID: 7620354

Clinical prediction guides

Effect of cervical and lumbosacral spina bifida cystica on volumes of intracranial structures in children.
Yiğit H, Güler H, Yılmaz H, Gümü ÜÖ, Karaman ZF, Güneş T
Childs Nerv Syst 2024 Feb;40(2):527-535. Epub 2023 Sep 12 doi: 10.1007/s00381-023-06153-2. PMID: 37698650
Measurement of the Area and Circumference of the Leg: Preliminary Results of a New Method for Estimating Leg Muscle Trophism in Fetuses With Open Lumbosacral Spina Bifida.
Milani HJF, de Sá Barreto EQ, Araujo Júnior E, Cavalheiro S, Barbosa MM, Moron AF
J Ultrasound Med 2022 Feb;41(2):377-388. Epub 2021 Apr 1 doi: 10.1002/jum.15715. PMID: 33792954
Intracranial infection in patients with myelomeningocele: profile and risk factors.
Anegbe AO, Shokunbi MT, Oyemolade TA, Badejo OA
Childs Nerv Syst 2019 Nov;35(11):2205-2210. Epub 2019 Jul 9 doi: 10.1007/s00381-019-04219-8. PMID: 31289854
Incidence and type of foot deformities in patients with spina bifida according to level of lesion.
Gunay H, Sozbilen MC, Gurbuz Y, Altinisik M, Buyukata B
Childs Nerv Syst 2016 Feb;32(2):315-9. Epub 2015 Oct 30 doi: 10.1007/s00381-015-2944-7. PMID: 26518781
Prenatal diagnosis of open spina bifida by MRI and ultrasonography.
Nakahara T, Uozumi T, Monden S, Muttaqin Z, Kurisu K, Arita K, Kuwabara S, Ohama K, Kumagai M, Nakahara K
Brain Dev 1993 Jan-Feb;15(1):75-8. doi: 10.1016/0387-7604(93)90010-6. PMID: 8338214

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