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.

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.

Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report.

Ilhan O, Pekcevik Y, Akbay S, et al.

Archivos argentinos de pediatria 2018; (116(1)):e130-e134 doi:10.5546/aap.2018.eng.e130.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, et al.

American journal of medical genetics. Part A 2018; (176(11)):2325-2330 doi:10.1002/ajmg.a.40505.

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.

Garcia Rodriguez R, Garcia Cruz L, Novoa Medina Y, et al.

Prenatal diagnosis 2019; (39(6)):415-419 doi:10.1002/pd.5451.

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.

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.

Dentici ML, Alesi V, Quinodoz M, et al.

Journal of medical genetics 2022; (59(3)):262-269 doi:10.1136/jmedgenet-2020-107430.

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.

Drissi I, Fletcher E, Shaheen R, et al.

Journal of medical genetics 2022; (59(4)):358-365 doi:10.1136/jmedgenet-2020-107237.

Mosaicism in Hartsfield syndrome.

Harris E, Richardson R, Annavarapu S, et al.

European journal of medical genetics 2022; (65(5)):104491 doi:10.1016/j.ejmg.2022.104491.

Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders.

Antoniadi M, Vitoratou DI, Marinou M, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(6)):608-613 doi:10.1515/jpem-2023-0015.

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.

Graziani L, Nuovo S, Pisaneschi 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 2024; (37(1)):2344718 doi:10.1080/14767058.2024.2344718.

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.

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion.

Shima H, Miura A, Kawashima S, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2025; (34(1)):54-59 doi:10.1297/cpe.2024-0024.

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.

The hedgehog co-receptors cdon and boc function redundantly to regulate zebrafish craniofacial development.

Nickens R, Guitar S, Zepeda B, et al.

Developmental dynamics : an official publication of the American Association of Anatomists 2026; doi:10.1002/dvdy.70153.