Research & Literature

MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.

Achilleos A, Huffman NT, Marcinkiewicyz E, et al.

Human molecular genetics 2015; (24(10)):2884-98 doi:10.1093/hmg/ddv050.

Sirenomelia: a rare presentation.

Reddy KR, Srinivas S, Kumar S, et al.

Journal of neonatal surgery 2012; (1(1)):7.

Caudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney.

Demir MK, Toktaş ZO, Yılmaz B, et al.

The spine journal : official journal of the North American Spine Society 2016; (16(3)):e193-4.

Reduction in Bladder-Related Autonomic Dysreflexia after OnabotulinumtoxinA Treatment in Spinal Cord Injury.

Fougere RJ, Currie KD, Nigro MK, et al.

Journal of neurotrauma 2016; (33(18)):1651-7 doi:10.1089/neu.2015.4278.

Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis.

Wu Y, Reece EA, Zhong J, et al.

American journal of obstetrics and gynecology 2016; (215(3)):366.e1-366.e10.

Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease: A Nationwide Cohort Study.

Øyen N, Diaz LJ, Leirgul E, et al.

Circulation 2016; (133(23)):2243-53 doi:10.1161/CIRCULATIONAHA.115.017465.

In utero diagnosis of caudal regression syndrome.

Negrete LM, Chung M, Carr SR, Tung GA

Radiology case reports 2015; (10(1)):1049 doi:10.2484/rcr.v10i1.1049.

Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.

Mottet N, Martinovic J, Baeza C, et al.

Fetal diagnosis and therapy 2017; (42(2)):137-143 doi:10.1159/000451080.

Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients.

Boruah DK, Dhingani DD, Achar S, et al.

Journal of clinical imaging science 2016; (6()):36 doi:10.4103/2156-7514.190892.

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.

Fontanella F, van Maarle MC, Robles de Medina P, et al.

Case reports in obstetrics and gynecology 2016; (2016()):7625341 doi:10.1155/2016/7625341.

Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome.

Devesa J, Alonso A, López N, et al.

International journal of molecular sciences 2017; (18(1)) doi:10.3390/ijms18010230.

Sacral neuromodulation in a patient with faecal incontinence and unknown sacral partial agenesis.

Lagares-Tena L, Corbella-Sala C, Navarro-Luna A, Muñoz-Duyos A

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2017; (19(5)):502-504 doi:10.1111/codi.13661.

Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly.

Kumar Y, Gupta N, Hooda K, et al.

Polish journal of radiology 2017; (82()):188-192 doi:10.12659/PJR.900971.

Long-term outcomes and risks factors for failure of intradetrusor onabotulinumtoxin A injections for the treatment of refractory neurogenic detrusor overactivity.

Joussain C, Popoff M, Phé V, et al.

Neurourology and urodynamics 2018; (37(2)):799-806 doi:10.1002/nau.23352.

Novel Technique for Sacral Alar-Iliac (S2AI) Fixation.

Andrade NS, Okafor L, Neuman BJ

Clinical spine surgery 2018; (31(9)):373-376 doi:10.1097/BSD.0000000000000574.

Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.

Szumera E, Jasiewicz B, Potaczek T

The journal of spinal cord medicine 2018; (41(4)):496-500 doi:10.1080/10790268.2017.1369211.

Intradetrusor injection of botulinum toxin A and sacral neuromodulation for neurogenic detrusor overactivity.

Joussain C, Phé V, Even A, et al.

European journal of physical and rehabilitation medicine 2017; (53(6)):991-997 doi:10.23736/S1973-9087.17.04978-4.

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.

Mottet N, Chaussy Y, Auber F, et al.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2018; (37(7)):1807-1820 doi:10.1002/jum.14522.

A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report.

Chawla GS, Agrawal PM, Bajwa KS

Polish journal of radiology 2017; (82()):621-624 doi:10.12659/PJR.903275.

Family resilience elements alleviate the relationship between maternal psychological distress and the severity of children's developmental disorders.

Suzuki K, Hiratani M, Mizukoshi N, et al.

Research in developmental disabilities 2018; (83()):91-98 doi:10.1016/j.ridd.2018.08.006.

Sacral agenesis combined with spinopelvic dissociation: A case report and literature review.

Zhang H, Guo H, He S, et al.

Medicine 2018; (97(37)):e12162 doi:10.1097/MD.0000000000012162.

Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up.

Kanagasabai K, Bhat V, Pramod GK, et al.

BJR case reports 2017; (3(2)):20150356 doi:10.1259/bjrcr.20150356.

Magnetic Resonance Imaging Observations of the Conus Medullaris in a Korean Population.

Moon MS, Jeong JH, Kim SJ, et al.

Asian spine journal 2019; (13(2)):313-317 doi:10.31616/asj.2018.0118.

Surgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome.

Vissarionov S, Schroder JE, Kokushin D, et al.

Global spine journal 2019; (9(3)):260-265 doi:10.1177/2192568218779984.

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.

Nalbandyan M, Howley MM, Cunniff CM, et al.

American journal of medical genetics. Part A 2019; (179(9)):1799-1814 doi:10.1002/ajmg.a.61290.

Dual S2 Alar-Iliac Screw Technique With a Multirod Construct Across the Lumbosacral Junction: Obtaining Adequate Stability at the Lumbosacral Junction in Spinal Deformity Surgery.

Park PJ, Lin JD, Makhni MC, et al.

Neurospine 2020; (17(2)):466-470 doi:10.14245/ns.1938320.160.

Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis).

Akhaddar A

World neurosurgery 2020; (142()):301-302 doi:10.1016/j.wneu.2020.07.055.

Caudal Regression Syndrome.

Kylat RI, Bader M

Children (Basel, Switzerland) 2020; (7(11)) doi:10.3390/children7110211.

Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III.

Dayasiri K, Thadchanamoorthy V, Thudugala K, et al.

Case reports in neurological medicine 2020; (2020()):8827281 doi:10.1155/2020/8827281.

Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.

Ferreira C, Santos AP, Fonseca J

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(25)):5224-5226 doi:10.1080/14767058.2021.1876021.

[Occurrence of rod fracture and salvage methods after primary surgery of the congenital lumbosacral deformity associated with sacral agenesis].

Bao HD, Zhang TY, Shu SB, et al.

Zhonghua yi xue za zhi 2021; (101(21)):1560-1565 doi:10.3760/cma.j.cn112137-20201019-02868.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

Stevens SJC, Stumpel CTRM, Diderich KEM, et al.

Clinical genetics 2022; (101(2)):183-189 doi:10.1111/cge.14076.

Transition readiness assessment in adolescents and young adults with rheumatic diseases: The Singapore experience.

Teh KL, Hoh SF, Chan SB, et al.

International journal of rheumatic diseases 2022; (25(3)):344-352 doi:10.1111/1756-185X.14277.

Caudal Regression Syndrome - a rare congenital disorder: A case report.

Mehdi SM, Baig U, Zia MH, Iftikhar N

JPMA. The Journal of the Pakistan Medical Association 2021; (71(12)):2847-2849 doi:10.47391/JPMA.01-499.

Biomechanical study of rod stress in lumbopelvic fixation with lateral interbody fusion: an in vitro experimental study using synthetic bone models.

Tsutsui S, Yamamoto E, Kozaki T, et al.

Journal of neurosurgery. Spine 2022; (37(1)):73-79 doi:10.3171/2021.11.SPINE21807.

Pregnancy in a patient with caudal regression syndrome following continent bladder reconstruction.

Shigenobu Y, Nagayama S, Manaka Y, et al.

The journal of obstetrics and gynaecology research 2022; (48(10)):2615-2619 doi:10.1111/jog.15334.

Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

Esposito G, Totonelli G, Iacobelli BD, et al.

Pediatric surgery international 2022; (38(10)):1461-1472 doi:10.1007/s00383-022-05168-1.

Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases.

Qudsieh H, Aborajooh E, Daradkeh A

Radiology case reports 2022; (17(12)):4636-4641 doi:10.1016/j.radcr.2022.09.037.

Morphometry of Conus Medullaris in the Saudi Population and Its Clinical Importance.

Hiware SD, Vallaba Doss CA, Alola HA, et al.

Cureus 2022; (14(12)):e32279 doi:10.7759/cureus.32279.

"I'll Be There": Informal and Formal Support Systems and Mothers' Psychological Distress during NICU Hospitalization.

Kestler-Peleg M, Stenger V, Lavenda O, et al.

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121958.

Analysis of the potential risk factors for defecation problems and their bowel management based on the long-term bowel function in patients with persistent cloaca: results of a nationwide survey in Japan.

Harumatsu T, Muto M, Kawano T, et al.

Pediatric surgery international 2023; (39(1)):96 doi:10.1007/s00383-023-05385-2.

Multiple Points of Pelvic Fixation: Stacked S2-Alar-Iliac Screws (S2AI) or Concurrent S2AI and Open Sacroiliac Joint Fusion with Triangular Titanium Rod.

Polly DW, Holton KJ, Soriano PO, et al.

JBJS essential surgical techniques 2022; (12(4)):e21.00044 doi:10.2106/JBJS.ST.21.00044.

Fetal Magnetic Resonance Imaging in Association With Antenatal Ultrasound in the Diagnosis of Caudal Dysgenesis: Report of Two Cases.

Mahmoud MH, Asghar T, Elkammash TH, et al.

Cureus 2023; (15(2)):e35485 doi:10.7759/cureus.35485.

Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm.

Purbasari U, Nazar H, Miraj F, et al.

Radiology case reports 2023; (18(7)):2478-2486 doi:10.1016/j.radcr.2023.04.015.

Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.

Dell'Apa D, Fumeo M, Volta A, et al.

Frontiers in veterinary science 2023; (10()):1201484 doi:10.3389/fvets.2023.1201484.

Caudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report.

Ayoub M, Dixon C, Byrd SE, Bowker RM

Journal of medical case reports 2023; (17(1)):491 doi:10.1186/s13256-023-04220-5.

A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.

Hundarova K, Geraldes F, Águas F, Rodrigues Â

The American journal of case reports 2024; (25()):e942748 doi:10.12659/AJCR.942748.

Long-term outcomes in sacral agenesis.

Thomson C, Mahmood A, Yun SM, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(6)):1791-1797 doi:10.1007/s00381-024-06326-7.

Cauda equina, conus medullaris and syndromes mimicking sciatic pain: WFNS spine committee recommendations.

Vaishya S, Pojskic M, Bedi MS, et al.

World neurosurgery: X 2024; (22()):100274 doi:10.1016/j.wnsx.2024.100274.

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

El Amrani Z, Natiq A, Sbiti A, et al.

Molecular syndromology 2024; (15(2)):125-129 doi:10.1159/000534432.

Factors associated with healthcare transition readiness for adolescents with chronic conditions: A cross-sectional study.

Hong HS, Im Y

Journal of child health care : for professionals working with children in the hospital and community 2025; (29(3)):658-672 doi:10.1177/13674935241248859.

Aberrant Dorsal Nerve Root as a Concomitant Cause of Spinal Cord Tethering Associated with a Dorsal Type Lipomyelomeningocele in a Child With Caudal Agenesis.

Baskurt O, Hicdonmez T, Gazioglu MN

Nigerian journal of clinical practice 2024; (27(4)):537-540 doi:10.4103/njcp.njcp_838_23.

Caudal Agenesis: Classification Based on the Pathoembryogenesis of the Spinal Cord.

Shim Y, Kim KH, Kim SK, et al.

Neurosurgery 2024; (95(5)):1117-1125 doi:10.1227/neu.0000000000002980.

Clinical and radiological evaluation of caudal regression syndrome.

Krishnan V, Jaganathan S, Jayappa S, et al.

Pediatric radiology 2024; (54(9)):1451-1461 doi:10.1007/s00247-024-05945-1.

Radiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.

Kadri H, Dughly M, Agha MS, et al.

Radiology case reports 2024; (19(8)):3548-3551 doi:10.1016/j.radcr.2024.05.002.

Transition to Adulthood in Pediatric Palliative Care: A Narrative Review.

Benini F, Brogelli L, Mercante A, Giacomelli L

Children (Basel, Switzerland) 2024; (11(7)) doi:10.3390/children11070860.

Caudal regression syndrome with incidental brain tumor in a woman: A case report.

Dawadi K, Tamang OY, Upadhyaya RP, Poudyal B

Radiology case reports 2024; (19(12)):6603-6608 doi:10.1016/j.radcr.2024.09.073.

Effectiveness of Transitional Care in Inflammatory Bowel Disease; Development, Validation, and Initial Outcomes of a Transition Success Score.

van Gaalen MAC, van Pieterson M, Waaijenberg P, et al.

Journal of Crohn's & colitis 2025; (19(4)) doi:10.1093/ecco-jcc/jjae166.

Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.

Devesa J, Fresco C, Devesa A, et al.

International journal of molecular sciences 2025; (26(4)) doi:10.3390/ijms26041627.

Comparison of outcomes after spinal column shortening for secondary tethered cord syndrome in pediatric versus adult patients: the University of Oklahoma experience.

Ozaydin B, Balasubramanian K, Jea A

Journal of neurosurgery. Pediatrics 2025; (35(5)):497-504 doi:10.3171/2024.12.PEDS24523.

High dose botox injection for treatment of high grade vesicoureteral reflux in a complicated pediatric case: A case report.

Saberi N, Jandaghi FS

Urology case reports 2025; (60()):103018 doi:10.1016/j.eucr.2025.103018.

Sacral Agenesis Type II in a 12-Year-Old Patient: A Delayed Presentation in a Low-Resource Setting.

Ayub M, La QD, Baloch A, Ahmed S

Cureus 2025; (17(6)):e86903 doi:10.7759/cureus.86903.

Tethered Cord Syndrome in Pediatric and Adult Populations: A Retrospective Analysis of Outcomes and Associated Spinal Dysraphisms.

Khizar A, Khan FI, Mehmood Qadri H, et al.

Cureus 2026; (18(1)):e102084 doi:10.7759/cureus.102084.

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Wang X, Min L, Bao L, et al.

Congenital anomalies 2026; (66(1)):e70046 doi:10.1002/cga.70046.