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Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome

✍ Scribed by Orrico, Alfredo; Hayek, Giuseppe; Burroni, Luca

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
23 KB
Volume
82
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990101)82:1<84::aid-ajmg16>3.0.co;2-f

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✦ Synopsis

We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in both patients and seem to be consistent with the phenotype of the Gurrieri syndrome. The new features described in these sibs could expand the clinical spectrum of the Gurrieri syndrome and confirm the existence of this rare autosomal recessive condition.

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