Disease: Holoprosencephaly
- 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
- Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus
- Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania
- Alobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication
- 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
- 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
- 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
- Cheiloplasty for False Median Cleft Lip Associated With Holoprosencephaly: The Use of Skin Graft for Philtrum Reconstruction, the Risk of Simultaneous Columella Reconstruction
- 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
- 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
- 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
- Ecce Homo: Moving past labels to lives
- Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report
- Entomopathogenic nematodes associated with organic honeybush (<em>Cyclopia</em> spp.) cultivation in South Africa
- Evolution in the clinic: Maladaptive units and "minor anomalies"
- Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study
- Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype
- 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
- Final notes on: Response to Galassi et al. concerning the paper by Turgut et al. "Three mythic giants for common fœtal malformation called 'cyclopia': Polyphemus, Tepegöz and Grendel", Child's Nervous System, DOI 10.1007/s00381-01
- 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
- 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
- Intracerebral retina-like pigmented tissue in a stillborn fetus with holoprosencephaly
- Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report
- Mosaicism in Hartsfield syndrome
- 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
- Patterning of the antero-ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse
- Pericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity
- Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?
- 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 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
- Prognostic factors, psychomotor development and life of trisomy 13 patients
- Rare manifestations of alobar holoprosencephaly and the potential causes: a report of two cases
- Risks of specific congenital anomalies in offspring of women with diabetes: A systematic review and meta-analysis of population-based studies including over 80 million births
- 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
- Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties
- STAG2: Computational Analysis of Missense Variants Involved in Disease
- Successful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin
- Survival of children with rare structural congenital anomalies: a multi-registry cohort study
- 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
- 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