• A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma
• A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A
• A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome
• A comprehensive newborn exam: part II. Skin, trunk, extremities, neurologic
• A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family
• A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance
• A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?
• A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: expanding the V in VACTERL association
• A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome
• Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)
• Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
• Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia
• Antenatal manifestations of mitochondrial respiratory chain deficiency
• Associated malformations in patients with limb reduction deficiencies
• Atelosteogenesis type I: autopsy findings
• Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
• Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis
• Bow-shaped tracheal rings: the lesson learnt from an endotracheal intubation
• Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum?
• Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks
• Characteristic findings for diagnosis of baby complicated with both the VACTERL association and duodenal atresia
• Chronic kidney disease in the VACTERL association: clinical course and outcome
• Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia
• Cluster analysis describes constellations of cardiac anomalies presenting in spinal anomaly patients
• Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome
• Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report
• Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur
• Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene
• De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
• 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
• Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation
• Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child
• Dichorionic twin fetuses with VACTERL association
• Duplication of 10q24 locus: broadening the clinical and radiological spectrum
• Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature
• Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
• Esophageal atresia with distal fistula - unusual case series. Considerations related to epidemiological aspects, malformative associations, and prenatal diagnosis
• Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency
• Foetal serum but not urinary β2-microglobulin correlates with histological injury to the kidney
• Fryns syndrome: a review of the phenotype and diagnostic guidelines
• Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
• Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association)
• Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia
• Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
• Genetic skeletal dysplasias: a guide to diagnosis and management
• Hemihypertrophy, renal dysplasia and benign nephromegaly
• Identification of a HOXD13 mutation in a VACTERL patient
• Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome
• INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder
• Left superior vena cava in pediatric cardiology associated with extra-cardiac anomalies
• Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene
• Meckel syndrome: genetics, perinatal findings, and differential diagnosis
• Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis
• Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis
• MURCS and thenar hypoplasia
• NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy
• Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
• Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases
• Oculoauriculovertebral spectrum with radial anomaly in child
• Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association
• Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted
• Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome
• Pseudoprune-belly syndrome in vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects association
• Radial longitudinal deficiency
• Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts
• Rare manifestations of sirenomelia syndrome: a report of five cases
• Recurrent short rib polydactyly syndrome
• Renal abnormalities in rat fetuses exposed to doxorubicin
• Renal and ureteral stones in V.A.C.T.E.R.L. association: endourological management
• Renal artery fibromuscular dysplasia in Pompe disease: A case report
• Renal Cell Carcinoma in a Patient With Crossed Renal Ectopia: A Case Report
• Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report
• Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia
• SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary
• Schimke versus non-Schimke chronic kidney disease: an anthropometric approach
• Screening practices and associated anomalies in infants with anorectal malformations: Results from the Midwest Pediatric Surgery Consortium
• Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients
• Sirenomelia (Mermaid Syndrome): A Case Report
• Sirenomelia: An anatomical assessment and genetic sex determination of two cases
• Sonic Hedgehog Signaling and VACTERL Association
• Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance
• The genetic landscape and clinical implications of vertebral anomalies in VACTERL association
• Tissue-limited mosaicism for monosomy 13
• Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association
• Trends in congenital anomalies in Europe from 1980 to 2012
• Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation
• Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome
• Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease
• UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
• VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin
• VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality
• VACTERL association: a new case with biotinidase deficiency and annular pancreas
• Vaginal construction using sigmoid colon in children and young adults
• Venous Ulcer in a 5-Year-Old Girl
• Vitamin D deficiency in a patient with HDR syndrome
• WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy
• Wolcott-Rallison syndrome
• Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
• Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome