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CHARGE association ...
CHARGE association in Sweden: malformations and functional deficits.
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- Strömland, Kerstin, 1934 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för oftalmologi,Institute of Clinical Neurosciences, Section of Ophtalmology
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- Sjögreen, Lotta, 1954 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för logopedi och foniatri,Institute of Selected Clinical Sciences, Department of Logopedics and Phoniatrics
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- Johansson, Maria E I, 1961 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
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Ekman Joelsson, Britt-Marie (författare)
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Miller, Marilyn (författare)
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- Danielsson, Susanna, 1964 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
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- Billstedt, Eva, 1961 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
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- Gillberg, Christopher, 1950 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
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- Jacobsson, Catharina (författare)
- Gothenburg University,Göteborgs universitet,Odontologiska institutionen,Institute of Odontology
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- Andersson-Norinder, Jan (författare)
- Gothenburg University,Göteborgs universitet,Odontologiska institutionen,Institute of Odontology
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- Granström, Gösta, 1950 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för särskilda specialiteter, Avdelningen för öron, näs- och halssjukdomar,Institute of Selected Clinical Sciences, Department of Otolaryngology
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(creator_code:org_t)
- 2005-01-04
- 2005
- Engelska.
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825. ; 133:3, s. 331-9
- Relaterad länk:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Nyckelord
- Abnormalities
- Multiple
- etiology
- pathology
- physiopathology
- Adolescent
- Adult
- Autistic Disorder
- pathology
- physiopathology
- Child
- Child
- Preschool
- Choanal Atresia
- pathology
- Coloboma
- pathology
- Deafness
- pathology
- Ear
- abnormalities
- Female
- Genitalia
- abnormalities
- Growth Disorders
- pathology
- Heart Defects
- Congenital
- pathology
- Humans
- Infant
- Infant
- Newborn
- Male
- Maternal Age
- Paternal Age
- Risk Factors
- Sweden
- Syndrome
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Strömland, Kerst ...
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Sjögreen, Lotta, ...
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Johansson, Maria ...
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Ekman Joelsson, ...
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Miller, Marilyn
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Danielsson, Susa ...
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visa fler...
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Billstedt, Eva, ...
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Gillberg, Christ ...
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Jacobsson, Catha ...
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Andersson-Norind ...
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Granström, Gösta ...
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visa färre...
- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Psykiatri
- Artiklar i publikationen
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American journal ...
- Av lärosätet
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Göteborgs universitet