Biomaterial Database

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. 2002

David Minn, and Dominique Christmann, and Anne De Saint-Martin, and Yves Alembik, and Mylène Eliot, and Geneviève Mack, and Michel Fischbach, and Jacques Flament, and Francis Veillon, and Hélène Dollfus

Fédération de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004569	Electroencephalography	Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.	EEG,Electroencephalogram,Electroencephalograms
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies
D005072	Evoked Potentials, Auditory	The electric response evoked in the CEREBRAL CORTEX by ACOUSTIC STIMULATION or stimulation of the AUDITORY PATHWAYS.	Auditory Evoked Potentials,Auditory Evoked Response,Auditory Evoked Potential,Auditory Evoked Responses,Evoked Potential, Auditory,Evoked Response, Auditory,Evoked Responses, Auditory,Potentials, Auditory Evoked
D005128	Eye Diseases	Diseases affecting the eye.	Eye Disorders,Eye Disease,Eye Disorder
D006330	Heart Defects, Congenital	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.	Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts