Oculoauriculovertebral spectrum with 5p15.33-pter deletion.
A report of the sixth case with the oculoauriculovertebral phenotype with limb anomalies and 5p terminal deletion is described.
Descartes
Maria
M
Department of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008265:Macrostomia / Q000473:pathology; D063173:Retrognathia / Q000473:pathology