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Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome

✍ Scribed by Romano Tenconi; Maurizio Clementi; G. Battista Moschini; Gianluca Casara; Carlo Baccichetti


Book ID
119839196
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
340 KB
Volume
20
Category
Article
ISSN
0009-9163

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A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a ,%beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl h