The Schinzel-Giedion syndrome.

The Schinzel-Giedion 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...

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...

Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome

We report two Japanese patients with Schinzel-Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.