• <em>CLCN7</em>-Related Osteopetrosis
• <em>P4HB</em> recurrent missense mutation causing Cole-Carpenter syndrome
• <em>PIK3CA</em>-Related Overgrowth Spectrum
• A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter--&gt;22q12.1: clinical, cytogenetic and molecular observations
• A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia
• A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
• A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <em>SOX9</em>
• A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
• A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies
• A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
• A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)
• A rare case of head injury associated with Albers Schonberg disease
• A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age
• A retrospective study of congenital anomalies and associated risk factors among children admitted at a tertiary hospital in northwestern Tanzania
• ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome
• Alpha-mannosidosis
• Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn
• Antenatal and postnatal diagnoses of visible congenital malformations in a sub-Saharan African setting: a prospective multicenter cohort study
• Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis
• Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
• Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
• Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report
• Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies
• Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
• Central nervous system abnormalities related to congenital fibrosis of extraocular muscles
• Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
• Characterization of Kidney and Skeleton Phenotypes of Mice Double Heterozygous for Foxc1 and Foxc2
• Citrinin and endosulfan induced teratogenic effects in Wistar rats
• Clinical epidemiological retro prospective studies on the incidence and prevalence of cardiac congenital abnormalities in a group of 1570 children, born in Iasi between 2000-2009
• Clinical experience of using multidetector-row CT for the diagnosis of disorders in cattle
• Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant
• Congenital anomalies in the baboon (Papio spp.)
• Congenital Chiari malformations
• Congenital hydrocephalus: gestational and neonatal outcomes
• Contribution of the corticospinal tract to motor impairment in spina bifida
• Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview
• CRTAP mutation in a patient with Cole-Carpenter syndrome
• Cumulative inactivation of Nell-1 in Wnt1 expressing cell lineages results in craniofacial skeletal hypoplasia and postnatal hydrocephalus
• Current Care and Investigational Therapies in Achondroplasia
• CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
• Cytochrome P450 Oxidoreductase Deficiency
• Dandy-Walker malformation: a rare association with hypoparathyroidism
• Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies
• Early fetal presentation of Koolen-de Vries: Case report with literature review
• Ecce Homo: Moving past labels to lives
• Effect of feeding graded doses of Citrinin on clinical and teratology in female Wistar rats
• Epidermal nevus syndrome with azygos anterior cerebral artery
• Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients
• Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
• Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction, skeletal, cerebral and vascular anomalies
• Fetal surgery for myelomeningocele: patient selection, perioperative management and outcomes
• Fetal surgery for myelomeningocele: progress and perspectives
• Foramen magnum compression in Coffin-Lowry syndrome: A case report
• How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study
• Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ
• Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
• In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial
• Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling
• Intravenous Sedation and Repeated "the Same Day General Anesthesia" for a School-age Boy with Dandy-Walker Syndrome and Dentinogenesis
• Intraventricular twin fetuses in fetu
• Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons
• Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D
• Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
• Low-dose maternal warfarin intake resulting in fetal warfarin syndrome: In search for a safe anticoagulant regimen during pregnancy
• Management of internal and external root resorption in primary teeth of a 3-year-old with myelomeningocele: A case report
• Management of pediatric patient with multiple cranial, intracranial, and spinal manifestations of Penttinen Syndrome: a case report
• Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
• Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
• Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
• Neurological Deficits of an Rps19(Arg67del) Model of Diamond-Blackfan Anaemia
• Neurosurgical Evaluation and Management of Children with Achondroplasia
• Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases
• New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
• NFIX--one gene, two knockouts, multiple effects
• Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome
• Nuclear factor I X deficiency causes brain malformation and severe skeletal defects
• Oral findings and dental care in a patient with myelomeningocele: case report of a 3-year-old child
• Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway
• Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings
• Phenotypic impacts of CSF1R deficiencies in humans and model organisms
• Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function
• PITX2 and FOXC1 spectrum of mutations in ocular syndromes
• Prenatal detection of Peters plus-like syndrome
• Prenatal diagnostics of birth defects in the Czech Republic--a fifteen-year period
• Prenatal toxicity of Ascaris pepsin inhibitor in mice
• Prevalence of birth defects in Risaralda, 2010-2013
• Radiologic and neuroradiologic findings in the mucopolysaccharidoses
• Research on the incidence and prevalence of congenital abnormalities in Iasi district and Iasi city, from 2001 to 2008
• Review of Teratogenic Effects of Leflunomide, Accutane, Thalidomide, Warfarin, Tetracycline, and Angiotensin-Converting Enzyme Inhibitors
• Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings
• SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS
• Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs
• Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion
• Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome
• Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis
• The Arkansas Tessier Number 3 Cleft Experience: Soft Tissue and Skeletal Findings With Primary Surgical Management: Four-Step Approach
• The central nervous system pressure histogram in hydrocephalus and hydromyelia
• The role of scoliosis on the comorbidity and demographics of neurofibromatosis type 1 patients: A retrospective analysis of the National Inpatient Sample database
• Unexpected phenotype in a frameshift mutation of PTCH1