Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report.

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.

Thanatophoric dysplasia: A case report.

[Clinical features and variant spectrum of FGFR3-related disorders].

Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.

Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India.

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.

A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report.

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia.

Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation.

De novo variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Diagnosis of thanatophoric dysplasia using clinical exome screening.

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.

Skeletal Dysplasia: A Case Report.

Thanatophoric Dysplasia - Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound.

Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.

The respiratory elastance ratio in thanatophoric dysplasia: A case report.

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.

Genetic examination for fetuses with increased nuchal translucency by exome sequencing.

Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature.

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis.

Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.

Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis.

High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.

Development of individuals with thanatophoric dysplasia surviving beyond infancy.

INITIAL EXPERIENCE WITH 3D-ULTRASOUND AS AN ADJUNCT TO 2DULTRASOUND IN FETAL ANOMALY DIAGNOSIS IN A NIGERIAN DIAGNOSTIC FACILITY.

Fatal fetal abnormality Irish live-born survival-an observational study.

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature.

Fetal Trigonocephaly (Strawberry Skull) in Early Pregnancy.

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.

Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing.

Thanatophoric dysplasia: A brief neuropathological review.

Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases.

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor.

Thanatophoric Skeletal Dysplasia: A Case Report.

Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Fetal magnetic resonance imaging of skeletal dysplasias.

Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3.

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.

Bone dysplasias in 1.6 million births in Argentina.

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio.

Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.

Proposal of patient-specific growth plate cartilage xenograft model for FGFR3 chondrodysplasia.

Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.

C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals.

A Lesson in Balancing Education and Empathy.

Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation.

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.

Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements.

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.

Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Metacarpal Bone Plane Examination by Ultrasonography for the Diagnosis of Fetal Forearm and Hand Deformity.

Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals.

Achondroplasia: Development, pathogenesis, and therapy.

HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.

Post-mortem cytogenomic investigations in patients with congenital malformations.

Thanatophoric dysplasia: A review.

Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources.

Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.

A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.

A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.

Prenatal diagnosis of single gene disorders using amniotic fluid as the starting material for PCR.

Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia.

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

Crystal Vue technique for imaging fetal spine and ribs.

Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

[Cloverleaf skull and bilateral facial clefts].

Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.

Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer.

Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.

A case of thanatophoric dysplasia type 2: a novel mutation.

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

A new prescription for growth? Statins, cholesterol and cartilage homeostasis.

Lethal short limb dwarfism: thanatophoric dysplasia- type I.