title: Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.
abstract: We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype.
authors.affiliation: Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Hitesh
authors.initials: H
authors.lastname: Shah
authors.forename: Susanne
authors.initials: S
authors.lastname: Bens
authors.forename: Almuth
authors.initials: A
authors.lastname: Caliebe
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.forename: Katta Mohan
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002386:Cataract / Q000175:diagnosis*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D007738:Kyphosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010388:Pelvis; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities