Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases

American Journal of Medical Genetics

Volumn 109, Issue 3, 2002, Pages 211-217

  Minn, David ^a   Christmann, Dominique ^a   De Saint Martin, Anne ^a   Alembik, Yves ^a   Eliot, Mylne ^a   Mack, Genevive ^a   Fischbach, Michel ^a   Flament, Jacques ^a   Veillon, Francis ^a   Dollfus, Hlne ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

Alacrima; Blindness; Corneal hypoesthesia; Cortical visual impairment; Deafness; EEG; Infantile spasms; Megacalycosis; Mental retardation syndrome; Neurodegeneration; Prenatal diagnosis; Seizures; Stapes malformation; Tuning fork

Indexed keywords

ACROCALLOSAL SYNDROME; ARTICLE; BLINDNESS; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; ELECTROENCEPHALOGRAM; HUMAN; INFANTILE SPASM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NERVE DEGENERATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; ELECTROENCEPHALOGRAPHY; ELECTRORETINOGRAPHY; EVOKED POTENTIALS, AUDITORY; EYE DISEASES; HEART DEFECTS, CONGENITAL; HUMANS; HYDRONEPHROSIS; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; STAPES; SYNDROME;

EID: 18344374855     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10348     Document Type: Article

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