Necropsy of original case of Lowry's syndrome.
The necropsy findings are reported on one of the original sibs of Lowry's syndrome. The child, who died at 7 years of bronchopneumonia, was severely dwarfed, microcephalic, and microphthalmic. The brain was small and extensively calcified, the cerebellar cortex hypoplastic, and the retinae atrophic. There were multiple skeletal and integumental and minor renal abnormalities. The lymphoid tissue was much reduced, and many arteries and arterioles were thickened and narrowed. This constitutes a unique constellation of lesions.
D001344:Autopsy; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000235:genetics; D002525:Cerebellar Cortex / Q000473:pathology; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008168:Lung / Q000473:pathology; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome