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

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...

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...

Eschar: an important clue to diagnosis.

To cite: Sundriyal D, Kumar N, Chandrasekharan A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-010105 DESCRIPTION A 35-year-old woman, a farmer by occupation, resident of Uttranchal (a sub-Himalayan area) in India, presented in the emergency department with complaints of fever for 1 week and breathlessness for 2 days. Fever was high grade, intermit...

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.