title: Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
abstract: VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound). Eighteen of the fifty-four patients had three or more VACTERL-H features. The presence of VACTERL-H association in 33% of those with FA is much higher than the previous estimate of 5% (P < 0.0001). We created the acronym PHENOS (Pigmentation, small Head, small Eyes, central Nervous system (not hydrocephalus), Otology, and Short stature) which includes all major phenotypic features of FA that are not in VACTERL-H; these findings were more frequent in the patients with FA who had VACTERL-H. Identification of any components of the VACTERL-H association should lead to imaging studies, and to consideration of the diagnosis of FA, particularly if the patient has radial ray and renal anomalies, as well as many features of PHENOS. There was no association of the presence or absence of VACTERL-H with development of cancer, stem cell transplant, or survival. Early diagnosis will lead to genetic counseling and early surveillance and management of complications of FA. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
mesh_terms: D000293:Adolescent; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003937:Diagnosis, Differential; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D005838:Genotype; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
chemical_list: D051856:Fanconi Anemia Complementation Group Proteins
keywords: VACTERL-H; VATER; fanconi anemia