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Schinzel-Giedion syndrome

par Verloes, Alain ;Moës, D.;Palumbo, Luigi;Bricteux, Guy;Elmer, Catherine ;François, Anne
Référence European journal of pediatrics, 152, 5, page (421-423)
Publication Publié, 1993-05

Article révisé par les pairs

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Résumé :

We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive. © 1993 Springer-Verlag.