期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 109, 期 3, 页码 211-217出版社
WILEY-LISS
DOI: 10.1002/ajmg.10348
关键词
mental retardation syndrome; neurodegeneration; seizures; infantile spasms; alacrima; corneal hypoesthesia; deafness; cortical visual impairment; blindness; EEG; megacalycosis; tuning fork; stapes malformation; prenatal diagnosis
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. (C) 2002 Wiley-Liss, Inc.
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