Septo-Optic-Pituitary Dysplasia Is a Clinical Syndrome, Not a Neuropathological Entity: An Autopsy-Based Study.

Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.

Management of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy.

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

Successful management of human parainfluenza virus-3 outbreak in a tertiary neonatal intensive care unit.

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

Sonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.

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

Mesencephalosynapsis and aqueductal stenosis.

Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.

Classification of isolated versus multiple birth defects: An automated process for population-based registries.

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

Post-mortem rapid aneuploidy testing for holoprosencephaly.

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.

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

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

Survival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999-2018.

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.

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.

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.

Role of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.

[Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system].

Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.

Clinical spectrum of orbital and ocular abnormalities on fetal MRI.

Entomopathogenic nematodes associated with organic honeybush (Cyclopia spp.) cultivation in South Africa.

Asymptomatic Hypernatremia in an Infant with Midline Defects.

Rhomboencephalosynapsis: Review of the Literature.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities.

Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child.

Congenital Agenesis of the Olfactory Bulbs: What to Suspect?

Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature.

Solitary Median Maxillary Central Incisor due to Nasal Pyriform Aperture Stenosis in Fetus: The First Prenatal Ultrasound Case Report.

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Comprehensive off-line CCC × LC-DAD-MS separation of Cyclopia pubescens Eckl. & Zeyh. phenolic compounds and structural elucidation of isolated compounds.

A case of rare isolated agnathia and literature review.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.

Agenesis of the septum pellucidum: Prenatal diagnosis and outcome.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Risk of Stillbirth for Fetuses With Specific Birth Defects.

Analysis of 270 fetuses with non-visualization of cavum septi pellucidi and vergae on in-utero magnetic resonance imaging.

Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients.

Pituitary Transcription Factor Mutations Leading to Hypopituitarism.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.

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

Syndromes associated with holoprosencephaly.

Hikers poisoned: Veratrum steroidal alkaloid toxicity following ingestion of foraged Veratrum parviflorum.

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Human Brain Abnormalities Associated With Prenatal Alcohol Exposure and Fetal Alcohol Spectrum Disorder.

Cyclopia: isolated and with agnathia-otocephaly complex.

Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate.

A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.

Congenital malformations and medical conditions associated with orofacial clefts in children in Burkina Faso.

Genetic causes of isolated and combined pituitary hormone deficiency.

Median cleft of the upper lip: A new classification to guide treatment decisions.

Etiological and clinical characteristics of central diabetes insipidus in children: a single center experience.

Agenesis of the corpus callosum. An autopsy study in fetuses.

Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly.

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

Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis.

Genetic causes of pituitary hormone deficiencies.

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Sex ratios among infants with birth defects, National Birth Defects Prevention Study, 1997-2009.

Two possible barriers blocking conjugation between different megakaryotypes of Blepharisma.