Research & Literature

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.

Winter TC, Kennedy AM, Woodward PJ

Radiographics : a review publication of the Radiological Society of North America, Inc 2015; (35(1)):275-90 doi:10.1148/rg.351140040.

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

Poelmans S, Kawamoto T, Cristofoli F, et al.

American journal of medical genetics. Part A 2015; (167A(10)):2451-8 doi:10.1002/ajmg.a.37207.

Subcortical heterotopia appearing as huge midline mass in the newborn brain.

Fukumura S, Watanabe T, Kimura S, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(2)):377-80 doi:10.1007/s00381-015-2841-0.

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.

Holoprosencephaly: antenatal and postnatal diagnosis and outcome.

Kaliaperumal C, Ndoro S, Mandiwanza T, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(5)):801-9 doi:10.1007/s00381-016-3015-4.

Primary Abbe Flap for Median Cleft Lip Deformity: New Trends on an Old Concept.

Steinberg JP, Brady CM, Burstein FD

The Journal of craniofacial surgery 2016; (27(2)):480-3 doi:10.1097/SCS.0000000000002420.

22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

Alp MY, Çebi AH, Seyhan S, et al.

Genetic counseling (Geneva, Switzerland) 2016; (27(1)):43-9.

Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.

Voutetakis A, Sertedaki A, Dacou-Voutetakis C

Current opinion in pediatrics 2016; (28(4)):545-50 doi:10.1097/MOP.0000000000000378.

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.

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.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Bruel AL, Thevenon J, Huet F, et al.

Clinical genetics 2018; (94(1)):182-184 doi:10.1111/cge.13211.

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.

Summers AD, Reefhuis J, Taliano J, Rasmussen SA

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):151-164 doi:10.1002/ajmg.c.31614.

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.

Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report.

Essa AA, Feleke LA, Ahmed DM

Journal of medical case reports 2018; (12(1)):207 doi:10.1186/s13256-018-1647-6.

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.

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.

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.

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E, Watson RA, Weninger WJ, et al.

American journal of human genetics 2019; (104(5)):985-989 doi:10.1016/j.ajhg.2019.03.018.

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.

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.

Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report.

Kisipan ML, Nyaga SN, Thuo JN, et al.

Veterinary medicine and science 2020; (6(3)):454-461 doi:10.1002/vms3.244.

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.

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.

Response to letter from Okoye JO and Ngokere AA "Are the prevalence of Trisomy 13 and the incidence of severe holoprosencephaly increasing in Africa?"

Abdel-Salam GMH, El-Dessouky SH, Aboulghar MM, Eid MM

Prenatal diagnosis 2020; (40(12)):1618-1619 doi:10.1002/pd.5804.

Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad.

Veluchamy M, Murugan M

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

Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes.

Nagai-Tanima M, Hong S, Hu P, et al.

Human mutation 2020; (41(12)):2105-2118 doi:10.1002/humu.24103.

Aventriculi associated with holoprosencephaly in a dog.

Barnard L, Durand A, Blume L, et al.

Journal of veterinary internal medicine 2020; (34(6)):2682-2686 doi:10.1111/jvim.15907.

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.

Hypothalamic-pituitary fungal infection causing panhypopituitarism.

Chin YH, Yap YL, Chin HH, Lau BK

The Medical journal of Malaysia 2021; (76(4)):606-609.

Holoprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway heifer with adipsia.

Nessler J, Wunderlich C, Eikelberg D, et al.

BMC veterinary research 2022; (18(1)):51 doi:10.1186/s12917-022-03152-4.

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.

Schizencephaly diagnosed after an episode of seizure during labor: A case report.

Paudel K, Prasad T, Gyawali P, et al.

Clinical case reports 2023; (11(5)):e7328 doi:10.1002/ccr3.7328.

Cranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma: a case report.

Dariansyah AD, Suryaningtyas W, Parenrengi MA

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(9)):2537-2541 doi:10.1007/s00381-023-06001-3.

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.

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

de Queiroz Júnior AF, Sanseverino MTV, Collares MVM, et al.

American journal of medical genetics. Part A 2024; (194(12)):e63836 doi:10.1002/ajmg.a.63836.

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.

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.

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.

Developmental, Endocrine, and Ophthalmologic Outcomes in Children Prenatally Diagnosed With Midline Brain Malformations.

Coletti ML, Keene JC, Smego AR, et al.

Pediatric neurology 2025; (167()):82-88 doi:10.1016/j.pediatrneurol.2025.03.005.

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.

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.

A case of early diagnosis of alobar holoprosencephaly from Pakistan: importance of prompt prenatal imaging.

Qazi R, Liaquat A, Qazi QUA, et al.

Journal of medical case reports 2026; doi:10.1186/s13256-026-06087-8.