Research & Literature

Diagnosis and Management of Combined Central Diabetes Insipidus and Cerebral Salt Wasting Syndrome After Traumatic Brain Injury.

Wu X, Zhou X, Gao L, et al.

World neurosurgery 2016; (88()):483-487 doi:10.1016/j.wneu.2015.10.011.

In Utero MR Imaging of Fetal Holoprosencephaly: A Structured Approach to Diagnosis and Classification.

Griffiths PD, Jarvis D

AJNR. American journal of neuroradiology 2016; (37(3)):536-43 doi:10.3174/ajnr.A4572.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones GE, Robertson L, Maniyar A, et al.

American journal of medical genetics. Part A 2016; (170(3)):754-9 doi:10.1002/ajmg.a.37511.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C, Dubourg C, Carré W, et al.

Clinical genetics 2016; (89(6)):659-68 doi:10.1111/cge.12722.

The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings.

Bulakbasi N, Cancuri O, Kocaoğlu M

The British journal of radiology 2016; (89(1063)):20160115 doi:10.1259/bjr.20160115.

Animal models of Central Diabetes Insipidus: Human relevance of acquired beyond hereditary syndromes and the role of oxytocin.

Bernal A, Mahía J, Puerto A

Neuroscience and biobehavioral reviews 2016; (66()):1-14.

Ultrasound guided placement of the distal catheter in paediatric ventriculoatrial shunts-an appraisal of efficacy and complications.

Clark DJ, Chakraborty A, Roebuck DJ, Thompson DN

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(7)):1219-25 doi:10.1007/s00381-016-3120-4.

Six3 dosage mediates the pathogenesis of holoprosencephaly.

Geng X, Acosta S, Lagutin O, et al.

Development (Cambridge, England) 2016; (143(23)):4462-4473 doi:10.1242/dev.132142.

Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence.

Waghmare TP, Sathe PA, Goel NA, Kandalkar BM

Journal of clinical and diagnostic research : JCDR 2016; (10(11)):ED23-ED24 doi:10.7860/JCDR/2016/22453.8932.

Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.

Oliver JD, Menapace DC, Cofer SA

International journal of pediatric otorhinolaryngology 2017; (98()):4-8 doi:10.1016/j.ijporl.2017.04.035.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Weiss K, Kruszka P, Guillen Sacoto MJ, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(1)):14-23 doi:10.1038/gim.2017.68.

Cyclopia: isolated and with agnathia-otocephaly complex.

Wai LT, Chandran S

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-220159.

ZIC2 in Holoprosencephaly.

Barratt KS, Arkell RM

Advances in experimental medicine and biology 2018; (1046()):269-299 doi:10.1007/978-981-10-7311-3_14.

Prenatal diagnosis of holoprosencephaly.

Kousa YA, du Plessis AJ, Vezina G

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):206-213 doi:10.1002/ajmg.c.31618.

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.

Ionescu CA, Calin D, Navolan D, et al.

Medicine 2018; (97(29)):e11521 doi:10.1097/MD.0000000000011521.

Neuropathology of holoprosencephaly.

Fallet-Bianco C

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):214-228 doi:10.1002/ajmg.c.31623.

Challenging issues arising in counseling families experiencing holoprosencephaly.

Hadley DW, Kruszka P, Muenke M

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):238-245 doi:10.1002/ajmg.c.31627.

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Hu T, Kruszka P, Martinez AF, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):175-186 doi:10.1002/ajmg.c.31622.

Holoprosencephaly from conception to adulthood.

Weiss K, Kruszka PS, Levey E, Muenke M

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):122-127 doi:10.1002/ajmg.c.31624.

Treatment of multi-loculated hydrocephalus using endoscopic cyst fenestration and endoscopic guided VP shunt insertion.

Piyachon S, Wittayanakorn N, Kittisangvara L, Tadadontip P

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2019; (35(3)):493-499 doi:10.1007/s00381-019-04047-w.

The wide spectrum of ultrasound diagnosis of holoprosencephaly.

Ionescu CA, Vladareanu S, Tudorache S, et al.

Medical ultrasonography 2019; (21(2)):163-169 doi:10.11152/mu-1614.

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.

Calloni SF, Caschera L, Triulzi FM

Neuroimaging clinics of North America 2019; (29(3)):411-421 doi:10.1016/j.nic.2019.03.003.

SHH signaling mediated by a prechordal and brain enhancer controls forebrain organization.

Sagai T, Amano T, Maeno A, et al.

Proceedings of the National Academy of Sciences of the United States of America 2019; (116(47)):23636-23642 doi:10.1073/pnas.1901732116.

Intravenous formulation of desmopressin delivered via oral and g tube routes for the treatment of central diabetes insipidus: First experience in infants.

Lim WY, Riba-Wolman R

Clinical endocrinology 2020; (92(2)):179-181 doi:10.1111/cen.14125.

Middle interhemispheric variant of holoprosencephaly in an asymptomatic adult.

Özdemir M, Turan A, Kavak RP

BJR case reports 2019; (5(4)):20190035 doi:10.1259/bjrcr.20190035.

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.

Tekendo-Ngongang C, Owosela B, Muenke M, Kruszka P

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(1)):154-158 doi:10.1002/ajmg.c.31770.

Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

Addissie YA, Kruszka P, Troia A, et al.

Environmental health : a global access science source 2020; (19(1)):65 doi:10.1186/s12940-020-00611-z.

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.

Kruszka P

Brain : a journal of neurology 2020; (143(8)):e65 doi:10.1093/brain/awaa177.

Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?

Okoye JO, Ngokere AA

Prenatal diagnosis 2020; (40(12)):1616-1617 doi:10.1002/pd.5777.

Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad.

Veluchamy M, Murugan M

Cureus 2020; (12(7)):e9181 doi:10.7759/cureus.9181.

Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.

Addissie YA, Troia A, Wong ZC, et al.

Birth defects research 2021; (113(1)):63-76 doi:10.1002/bdr2.1834.

A rare case of bilateral proboscis lateralis: Prenatal US and MRI findings.

Sarsmaz K, Lafci O, Cayonu Kahraman N, et al.

Journal of clinical ultrasound : JCU 2021; (49(6)):632-635 doi:10.1002/jcu.22982.

Pituitary stalk interruption syndrome.

Voutetakis A

Handbook of clinical neurology 2021; (181()):9-27 doi:10.1016/B978-0-12-820683-6.00002-6.

Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.

Sikakulya FK, Kiyaka SM, Masereka R, Ssebuufu R

Case reports in otolaryngology 2021; (2021()):7282283 doi:10.1155/2021/7282283.

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.

Sakaria RP, Zaveri PG, Holtrop S, et al.

Frontiers in genetics 2021; (12()):766316 doi:10.3389/fgene.2021.766316.

Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.

Lo HF, Hong M, Krauss RS

Frontiers in cell and developmental biology 2021; (9()):795194 doi:10.3389/fcell.2021.795194.

Asymptomatic Hypernatremia in an Infant with Midline Defects.

Geminiganesan S, Ramanan PV, J D, et al.

EJIFCC 2021; (32(4)):467-471.

Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure.

Chen CP, Wang LK, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2022; (61(1)):135-137 doi:10.1016/j.tjog.2021.11.022.

Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties.

Montaguti E, Cariello L, Brunelli E, et al.

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)):9717-9723 doi:10.1080/14767058.2022.2050900.

Successful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin.

Akashi Y, Park YT, Oetelaar GS, Murakami M

JFMS open reports 2022; (8(1)):20551169221082542 doi:10.1177/20551169221082542.

Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania.

Ariyo IJ, Mchaile DN, Magwizi M, et al.

International journal of surgery case reports 2022; (93()):106960 doi:10.1016/j.ijscr.2022.106960.

Pseudo-intestinal obstruction after transsphenoidal surgery for craniopharyngioma.

Ohta J, Kadoi Y, Tosaka M, Saito S

Journal of surgical case reports 2022; (2022(5)):rjac254 doi:10.1093/jscr/rjac254.

Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.

Kingdom R, Wright CF

Frontiers in genetics 2022; (13()):920390 doi:10.3389/fgene.2022.920390.

Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation: A Case Report.

Ghanta PR, Phatak S, Bhansali PJ, et al.

Cureus 2022; (14(7)):e27375 doi:10.7759/cureus.27375.

Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports.

Meryem B, Amine N, Houssein O, et al.

Global pediatric health 2023; (10()):2333794X231156037 doi:10.1177/2333794X231156037.

Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature.

Kollu R, Kotamraju S, Uligada S, Varunya M

Cureus 2023; (15(2)):e34576 doi:10.7759/cureus.34576.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Mao K, Borel C, Ansar M, et al.

Nature communications 2023; (14(1)):2026 doi:10.1038/s41467-023-37703-6.

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.

Malta M, AlMutiri R, Martin CS, Srour M

Children (Basel, Switzerland) 2023; (10(4)) doi:10.3390/children10040647.

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant.

Nonkulovski D, Sofijanova A, Spasovska T, et al.

Balkan journal of medical genetics : BJMG 2023; (25(2)):71-76 doi:10.2478/bjmg-2022-0017.

Congenital complete arhinia with alobar holoprosencephaly.

Boakye-Yiadom AP, Nguah SB, Mahama H, Plange-Rhule G

Ghana medical journal 2022; (56(3)):231-235 doi:10.4314/gmj.v56i3.14.

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.

Galeotti A, De Vincentiis GC, Sitzia E, et al.

Children (Basel, Switzerland) 2024; (11(5)) doi:10.3390/children11050554.

Holoprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.

Gomez GD, Corrêa DG, Trapp B, et al.

Japanese journal of radiology 2025; (43(1)):13-31 doi:10.1007/s11604-024-01655-8.

Cyclopia in a newborn rhesus macaque born to a dam infected with SIV and receiving antiretroviral therapy during pregnancy.

Doyle-Meyers L, Dong C, Xu EQ, et al.

Current trends in immunology 2023; (24()):91-103.

Lobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.

Barman P, Mishra GV, Murugan G, et al.

Radiology case reports 2025; (20(4)):2004-2008 doi:10.1016/j.radcr.2025.01.029.

Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate.

Agrawal R, Raj N, Dhawan V, et al.

Radiology case reports 2025; (20(5)):2323-2327 doi:10.1016/j.radcr.2025.01.080.

Surgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.

Reynoso LG, Rodríguez Lezama A, Hernández Martínez CA, et al.

Cureus 2025; (17(5)):e84345 doi:10.7759/cureus.84345.

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Pebrel-Richard C, Kuentz P, Tabet AC, et al.

Clinical genetics 2026; (109(1)):99-108 doi:10.1111/cge.70027.

Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report.

Minchola-Vega JL, Zamora-Mostacero VE, Lazarte-Rantes CI

AJOG global reports 2025; (5(3)):100539 doi:10.1016/j.xagr.2025.100539.

Sublingual Administration of Desmopressin Oral Disintegrating Tablet in a Neonate With Central Diabetes Insipidus.

Watanabe D, Yagasaki H, Tsukahara M, et al.

Cureus 2025; (17(7)):e87902 doi:10.7759/cureus.87902.

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.

Caropeboka MFA, Nisa AS, Pramatirta AY, et al.

International medical case reports journal 2026; (19()):569641 doi:10.2147/IMCRJ.S569641.

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Stellacci E, Ziccardi L, Bruselles A, et al.

International journal of molecular sciences 2026; (27(5)) doi:10.3390/ijms27052368.