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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.

Journal article
Authors Kerstin Strömland
Marilyn Miller
Lotta Sjögreen
Maria E I Johansson
Britt-Marie Ekman Joelsson
Eva Billstedt
Christopher Gillberg
Susanna Danielsson
Catharina Jacobsson
Jan Andersson-Norinder
Gösta Granström
Published in American Journal of Medical Genetics. Part A
Volume 143A
Issue 12
Pages 1317-1325
ISSN 1552-4825
Publication year 2007
Published at Institute of Odontology
Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Institute of Clinical Sciences
Pages 1317-1325
Language en
Links dx.doi.org/10.1002/ajmg.a.31769
Keywords Adolescent, Cerebrum, Abnormalities, Child, Child, Preschool, Ear, Abnormalities, Eating Disorders, Pathology, Eye Abnormalities, Pathology, Female, Goldenhar Syndrome, Genetics, Pathology, Heart Defects, Congenital, Pathology, Humans, Infant, Intellectual Disability, Pathology, Male, Neuropsychological Tests, Prospective Studies, Risk Factors, Sensation Disorders, Pathology, Speech Disorders, Pathology, Spine, Abnormalities, Sweden
Subject categories Paediatric cardiology, Neurology, Child and adolescent psychiatry, Ophthalmology, Pediatrics

Abstract

Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.

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