Disease: VACTERL hydrocephaly
- A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus
- Absence of excess chromosome breakage in a patient with VACTERL-hydrocephalus
- Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study
- Association of VACTERL and hydrocephalus: a new familial entity
- Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984)
- Congenital healed cleft lip
- Congenital malformations in twins: a population study
- Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child
- Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
- Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome
- Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort
- Hepatoblastoma in a 4-year-old girl with Fanconi anaemia
- How to research oligohydramnios?
- Mermaid syndrome associated with VACTERL-H syndrome
- Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus
- Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings
- Population-based study of tracheoesophageal fistula and esophageal atresia
- Postnatally diagnosed agenesis of corpus callosum in fetuses
- Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
- Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association
- Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS
- Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases
- Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
- Rhomboencephalosynapsis: Review of the Literature
- Should chromosome breakage studies be performed in patients with VACTERL association?
- Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies
- Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype
- Syringomyelia in VACTERL-H association: a new neurological feature in an adult patient
- Tale of a mermaid
- Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS
- Triphalangeal thumb in a case of VACTERL-hydrocephalus association
- Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome
- VACTERL and hydrocephalus
- VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer
- VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?
- VACTERL plus hydrocephalus: a monogenic lethal condition
- VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers
- VACTERL with hydrocephalus and isolated tracheo-oesophageal fistula in a first cousin
- VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene
- VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance
- VACTERL with hydrocephalus: family with X-linked VACTERL-H
- VACTERL with hydrocephalus: further delineation of the syndrome(s)
- VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?
- VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance
- VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies
- VACTERL-H associated with central hypothyroidism: a case report
- VACTERL-H association with tibial agenesis. Expansion of the clinical phenotype?
- VACTERL-H syndrome
- VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient
- VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community
- VACTERL/VATER Association
- VATER and hydrocephalus: distinct syndrome?
- X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
- X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations
- X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome
- X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report