• A case of cyclopia
• A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria
• A novel missense variant of <em>FGFR1</em> in a Japanese girl with Kallmann syndrome and holoprosencephaly
• A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly
• A plunging ranula in a child with holoprosencephaly: a case of unique pathophysiology and difficult airway management
• Adult Radiographic Presentation of Corpus Callosal Agenesis With a Single Interhemispheric Cyst and Dandy-Walker Malformation: A Case Report
• An infant with patau syndrome associated with congenital heart defects
• Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports
• Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation: A Case Report
• Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations
• Brain Organization and Human Diseases
• Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review
• Carbamazepine-Responsive Chorea in a Toddler with Semilobar Holoprosencephaly: Case Report
• CDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report
• Cheiloplasty for False Median Cleft Lip Associated With Holoprosencephaly: The Use of Skin Graft for Philtrum Reconstruction, the Risk of Simultaneous Columella Reconstruction
• Classification of isolated versus multiple birth defects: An automated process for population-based registries
• Clinical spectrum of orbital and ocular abnormalities on fetal MRI
• CNKSR2, a downstream mediator of retinoic acid signaling, modulates the Ras/Raf/MEK pathway to regulate patterning and invagination of the chick forebrain roof plate
• CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus
• Congenital complete arhinia with alobar holoprosencephaly
• Congenital hyporhinia with associated malformations: Case report of a rare congenital anomaly
• Cranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma: a case report
• Cyclopia baby: Congenital lethal malformation: Rare case report
• Detection of non-cardiac fetal abnormalities by ultrasound at 11-14 weeks: systematic review and meta-analysis
• Detection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis
• Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
• DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
• Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series
• Ecce Homo: Moving past labels to lives
• Effects of GLP1 receptor analogues in obesity with neurodevelopmental disorder: case report of a patient with holoprosencephaly
• Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report
• Evolution in the clinic: Maladaptive units and "minor anomalies"
• Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study
• Fetal Brain Development: Regulating Processes and Related Malformations
• Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature
• Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific <em>CNOT1</em> Variant
• Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant
• First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies
• Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing
• Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature
• Geospatiotemporal and Causal Inferential Study of European Epidemiological Patterns of Cannabis- and Substance-Related Congenital Orofacial Anomalies
• Hedgehog Autoprocessing: From Structural Mechanisms to Drug Discovery
• Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
• Holoprosencephaly
• Holoprosencephaly
• Holoprosencephaly (HPE) : case report and review of the literature
• Holoprosencephaly in Patau Syndrome
• Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of <em>bmp4</em>, Oversaturating BMP Antagonists in Zebrafish
• Holoprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of bmp4, Oversaturating BMP Antagonists in Zebrafish
• Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management
• Holoprosencephaly: Syndromic or Non-syndromic is the question
• Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development
• Imaging of Congenital Malformations of the Brain
• Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth
• INDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies
• Introduction of a nationwide first-trimester anomaly scan in the Dutch national screening program
• Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report
• Knockout mice with pituitary malformations help identify human cases of hypopituitarism
• Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome
• Mystical and mythological believes not only limited to psychiatric diseases? A dynamic overview of medicine
• Non-Invasive Detection of a De Novo Frameshift Variant of <em>STAG2</em> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
• 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 adre
• Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations
• Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity
• Phenotypic and cytogenetic variability of patau syndrome in Morocco
• Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
• Post-mortem rapid aneuploidy testing for holoprosencephaly
• Prdm15 acts upstream of Wnt4 signaling in anterior neural development of <em>Xenopus laevis</em>
• Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review
• Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population-based cohort study in the Netherlands
• Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
• Prenatal identification of a pathogenic maternal <em>FGFR1</em> variant in two consecutive pregnancies with fetal forebrain malformations
• Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses
• Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies
• Prognostic factors, psychomotor development and life of trisomy 13 patients
• Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome: A case report and review of the literature
• Rare manifestations of alobar holoprosencephaly and the potential causes: a report of two cases
• Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review
• Role of Fetal MRI in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review
• Schizencephaly diagnosed after an episode of seizure during labor: A case report
• Semilobar Holoprosencephaly Caused by a Novel and De Novo <em>ZIC2</em> Pathogenic Variant
• Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant
• Sinus pericranii associated with syntelencephaly: a case report
• Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
• Sonic hedgehog signaling in craniofacial development
• STAG2: Computational Analysis of Missense Variants Involved in Disease
• Survival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999-2018
• Synophtalmia on a newborn
• Syntelencephaly: medial interhemispheric variant of holoprosencephaly
• The diagnosis of the middle interhemispheric variant of holoprosencephaly with fetal MRI
• The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants
• The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience
• The utility of balloon dilation for piriform aperture stenosis - A first line surgical treatment
• TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
• Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
• Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly
• Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system
• Vertical course of fetal anterior cerebral artery as clue to prenatal diagnosis of syntelencephaly
• Whole genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries
• Whole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries