Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.
Schinzel-Giedion syndrome (SGS) is a rare and incompletely defined condition. This is the third postmortem study on a boy with SGS and other unusual findings. He had a primitive neuroectodermal tumor in the lumbosacral region, bilateral syndactyly of hands and feet, and brain anomalies in addition to the major manifestations of the syndrome. We consider these clinical findings as possible additional manifestations of the syndrome since, of 19 SGS patients reported, 4 had syndactyly and 3 had embryonal tumors. In addition, the 3 published necropsy studies report brain anomalies. Knowledge that these changes occur in SGS may help facilitate diagnosis and improve our understanding of the syndrome.
Rodríguez
J I
JI
Department of Pathology, La Paz Hospital, Madrid, Spain.
Jiménez-Heffernan
J A
JA
Leal
J
J
D000015:Abnormalities, Multiple / Q000473:pathology; D001344:Autopsy; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005835:Genitalia / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013576:Syndactyly; D013577:Syndrome