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Schinzel-Giedion syndrome (1993)

Verloes, A. ; Moës, D. ; Palumbo, L. ; [et al.]

Springer

European journal of pediatrics 152 (1993), S. 421-423

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ISSN: 1432-1076

Keywords: Midface retraction ; Hypertrichosis ; Mental retardation

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01955902

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