Joubert Syndrome: Monozygotic Twins With Discordant Phenotypes

We describe three sisters with Joubert syndrome, two of whom are monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birthweights. Their anatomic, neurologic, and developmental status differs greatly: Twin B is able to walk, run, and i...

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Veröffentlicht in:	Journal of child neurology 1999-10, Vol.14 (10), p.649-654
Hauptverfasser:	Raynes, Hillary R., Shanske, Alan, Goldberg, Sharon, Burde, Ronald, Rapin, Isabelle
Format:	Artikel
Sprache:	eng
Schlagworte:	Assistive Technology Autism Cerebellum - abnormalities Child Child, Preschool Developmental Delays Developmental Disabilities - diagnosis Developmental Disabilities - genetics Diseases in Twins - genetics Eye Movements Female Fetal Growth Retardation - diagnosis Fetal Growth Retardation - genetics Follow-Up Studies Fourth Ventricle - abnormalities Fourth Ventricle - pathology Genetic Predisposition to Disease - genetics Humans Infant Intellectual Disability Magnetic Resonance Imaging Neurologic Examination Optics Phenotype Pregnancy Severe Disabilities Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics Syndrome Twins, Monozygotic Visual Impairments
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