Schinzel-Giedion midface retraction syndrome

Schinzel-Giedion midface retraction syndrome

Other names: Schinzel-Giedion syndrome. Note: The use of the long form of the name, SchinzelGiedion midface retraction syndrome, is preferred to prevent confusion with Schinzel ulnar-mammary syndrome, a completely unrelated and clinically nonoverlapping condition also described by Dr Schinzel. Inheritance: Schinzel-Giedion midface retraction syndrome is presumed to be inherited as autosomal rec...

The Schinzel-Giedion syndrome.

Cancer Prone Disease Section

Other names: Schinzel-Giedion syndrome. Note: The use of the long form of the name, SchinzelGiedion midface retraction syndrome, is preferred to prevent confusion with Schinzel ulnar-mammary syndrome, a completely unrelated and clinically nonoverlapping condition also described by Dr Schinzel. Inheritance: Schinzel-Giedion midface retraction syndrome is presumed to be inherited as autosomal rec...

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the impo...

Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter

Schinzel-Giedion syndrome which is associated with midfacial hypoplasia and coarse dysmorphic features is a multiple congenital malformation syndrome. It is believed that risk of malignancy may be a component of the anomaly. We report herein a case of a 16 months old boy with SGS associated with sacrococcygeal teratoma and cor-triatriatum dexter. Histopathology report of the excised sacrococcyg...