Research & Literature

Cyclopia: a rare condition with unusual presentation - a case report.

Salama GS, Kaabneh MA, Al-Raqad MK, et al.

Clinical medicine insights. Pediatrics 2015; (9()):19-23 doi:10.4137/CMPed.S21107.

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.

Syngelaki A, Guerra L, Ceccacci I, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017; (50(1)):45-48 doi:10.1002/uog.17286.

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.

The emotional process from diagnosis to birth following a prenatal diagnosis of fetal anomaly: A qualitative study of messages in online discussion boards.

Carlsson T, Starke V, Mattsson E

Midwifery 2017; (48()):53-59 doi:10.1016/j.midw.2017.02.010.

Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy.

Raisingani M, Palliyil Gopi R, Shah B

Case reports in pediatrics 2017; (2017()):2407028 doi:10.1155/2017/2407028.

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Stokes B, Berger SI, Hall BA, et al.

Congenital anomalies 2018; (58(1)):29-32 doi:10.1111/cga.12234.

BOC is a modifier gene in holoprosencephaly.

Hong M, Srivastava K, Kim S, et al.

Human mutation 2017; (38(11)):1464-1470 doi:10.1002/humu.23286.

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Travessa A, Dias P, Rocha P, Sousa AB

Taiwanese journal of obstetrics & gynecology 2017; (56(4)):541-544 doi:10.1016/j.tjog.2017.01.012.

[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant].

Seck N, Basse I, Keita Y, et al.

The Pan African medical journal 2017; (28()):193 doi:10.11604/pamj.2017.28.193.11288.

Holoprosencephaly: A clinical genomics perspective.

Solomon BD, Retterer K, Juusola J

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):194-197 doi:10.1002/ajmg.c.31613.

Syndromes associated with holoprosencephaly.

Kruszka P, Muenke M

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):229-237 doi:10.1002/ajmg.c.31620.

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.

Recent advances in understanding inheritance of holoprosencephaly.

Dubourg C, Kim A, Watrin E, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):258-269 doi:10.1002/ajmg.c.31619.

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.

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.

Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.

Hinreiner S, Wieczorek D, Mueller D, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):198-205 doi:10.1002/ajmg.c.31625.

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

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

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):1015-1020 doi:10.1038/s41436-018-0261-8.

Compassion and Community in Perinatal Palliative Care: Understanding the Necessity of the Patient Perspective Through Narrative Illustration.

Kuchemba-Hunter J

Journal of palliative care 2019; (34(3)):160-163 doi:10.1177/0825859719827020.

A forebrain undivided: Unleashing model organisms to solve the mysteries of holoprosencephaly.

Grinblat Y, Lipinski RJ

Developmental dynamics : an official publication of the American Association of Anatomists 2019; (248(8)):626-633 doi:10.1002/dvdy.41.

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.

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Tekendo-Ngongang C, Kruszka P, Martinez AF, Muenke M

Clinical genetics 2019; (96(3)):266-270 doi:10.1111/cge.13598.

Perinatal Palliative Care: ACOG COMMITTEE OPINION, Number 786.

Obstetrics and gynecology 2019; (134(3)):e84-e89 doi:10.1097/AOG.0000000000003425.

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.

Holoprosencephaly in Kabuki syndrome.

Daly T, Roberts A, Yang E, et al.

American journal of medical genetics. Part A 2020; (182(3)):441-445 doi:10.1002/ajmg.a.61454.

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.

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

El-Dessouky SH, Aboulghar MM, Gaafar HM, et al.

Prenatal diagnosis 2020; (40(5)):565-576 doi:10.1002/pd.5649.

Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study.

Whalen M

Neonatal network : NN 2020; (39(2)):83-91 doi:10.1891/0730-0832.39.2.83.

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.

Perinatal Palliative Care Birth Planning as Advance Care Planning.

Cortezzo DE, Ellis K, Schlegel A

Frontiers in pediatrics 2020; (8()):556 doi:10.3389/fped.2020.00556.

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.

[Psychological distress, dyadic adjustment and family dynamics after prenatal diagnosis of congenital heart disease].

Salvador M, Vilaregut A, Moyano R, et al.

Anales de pediatria 2021; doi:10.1016/j.anpedi.2021.05.023.

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.

Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus.

Henker LC, Lorenzett MP, Piva MM, et al.

Journal of equine veterinary science 2022; (112()):103898 doi:10.1016/j.jevs.2022.103898.

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.

Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication.

Elfarawi H, Tolusso L, McGowan ML, et al.

Prenatal diagnosis 2022; (42(5)):617-627 doi:10.1002/pd.6130.

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.

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.

Maternal Distress in Disclosing a Nonlethal Fetal Anomaly Diagnosis to Family and Friends.

Tucker JA, Christian BJ

MCN. The American journal of maternal child nursing 2022; (47(4)):220-226 doi:10.1097/NMC.0000000000000829.

Longitudinal Perinatal Palliative Care for Severe Fetal Neurologic Diagnoses.

Humphrey LM, Schlegel AB

Seminars in pediatric neurology 2022; (42()):100965 doi:10.1016/j.spen.2022.100965.

Surgical outcomes in children with Trisomy 13: An ACS NSQIP - Pediatric review.

Cook BH, Choi PM, Lucas DJ

Journal of pediatric surgery 2023; (58(3)):384-388 doi:10.1016/j.jpedsurg.2022.08.010.

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.

The Path Is Made by Walking-Mapping the Healthcare Pathways of Parents Continuing Pregnancy after a Severe Life-Limiting Fetal Diagnosis: A Qualitative Interview Study.

Hein K, Flaig F, Schramm A, et al.

Children (Basel, Switzerland) 2022; (9(10)) doi:10.3390/children9101555.

Rare manifestations of alobar holoprosencephaly and the potential causes: a report of two cases.

Nakawa W, Alkhalil S, Martini N, Alawad I

Annals of medicine and surgery (2012) 2023; (85(2)):252-256 doi:10.1097/MS9.0000000000000176.

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.

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.

Role of palliative care in fetal neurological consultations: Guiding through uncertainty and hope.

Cortezzo DE, Vawter-Lee M, Shoaib A, Venkatesan C

Frontiers in pediatrics 2023; (11()):1205543 doi:10.3389/fped.2023.1205543.

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.

Holoprosencephaly (HPE) : case report and review of the literature.

Fedoua W, Mouna H, Hasana S, et al.

International journal of surgery case reports 2023; (110()):108723 doi:10.1016/j.ijscr.2023.108723.

The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants.

Taruscio D, Mantovani A

Annali dell'Istituto superiore di sanita 2023; (59(4)):295-303 doi:10.4415/ANN_23_04_09.

The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.

Beyari B, Alhassan Y, Gabra A, et al.

Cureus 2023; (15(12)):e50793 doi:10.7759/cureus.50793.

Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.

Karim JN, Di Mascio D, Roberts N, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2024; (64(1)):15-27 doi:10.1002/uog.27649.

Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report.

Bahari H, Hajaj H, Ayyad A, et al.

Cureus 2024; (16(5)):e60264 doi:10.7759/cureus.60264.

CDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.

Farhud DD, Varjavand P, Zarif-Yeganeh M

Iranian journal of public health 2024; (53(2)):482-489 doi:10.18502/ijph.v53i2.14933.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

Hammou HA, Sennaoui M, Bouzid F, et al.

African health sciences 2023; (23(4)):575-581 doi:10.4314/ahs.v23i4.60.

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.

The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.

Mohamed ME, Ahmed SR, Elsayed Ahmed EM, Ibrahim EH

Cureus 2024; (16(10)):e70843 doi:10.7759/cureus.70843.

Recognising uncertainty: an integrated framework for palliative care in perinatal medicine.

Wilkinson D, Bertaud S, Mancini A, et al.

Archives of disease in childhood. Fetal and neonatal edition 2025; (110(3)):236-244 doi:10.1136/archdischild-2024-327662.

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.

Alobar Holoprosencephaly in a Newborn: A Case Report of Prenatal Diagnosis and a Review of the Literature.

Chafiq K, Toumi K, Khayi FE, Daoudi A

Cureus 2024; (16(11)):e74462 doi:10.7759/cureus.74462.

Hydranencephaly in a Newborn: A Case Report and a Review of the Literature.

Toumi K, Chafiq K, Khayi FE, Daoudi A

Cureus 2024; (16(12)):e75435 doi:10.7759/cureus.75435.

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.

Management of Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Neonates and Infants.

Pearlstein H, Dayno A, Zook J, et al.

Hormone research in paediatrics 2025; 1-11 doi:10.1159/000547155.

Cyclopia Syndrome with Neck Presentation: A Case of Alobar Holoprosencephaly and Prenatal Diagnostic Challenges.

Taifour W, Ranjous Y, Khoury M, et al.

International medical case reports journal 2025; (18()):893-898 doi:10.2147/IMCRJ.S533051.

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.

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.

Efimova I, Mukhina A, Markova Z, et al.

International journal of molecular sciences 2025; (26(19)) doi:10.3390/ijms26199302.

Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.

Glista F, Nienartowicz J, Bukowska-Olech E

Journal of applied genetics 2025; doi:10.1007/s13353-025-01017-8.

Ophthalmologic Findings in an Induced Model of Holoprosencephaly in Zebrafish.

Bulk J, Kyrychenko V, Heermann S

The Journal of comparative neurology 2025; (533(11)):e70113 doi:10.1002/cne.70113.

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.

AlRayahi J, AlDasuqi K, AlSubhi M, et al.

Neuroradiology 2026; (68(5)):1213-1233 doi:10.1007/s00234-026-03916-x.

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.

Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report.

Aryal S, Rimal B, Paudel S, Marasini K

Radiology case reports 2026; (21(4)):1706-1711 doi:10.1016/j.radcr.2025.12.059.