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An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly

✍ Scribed by Alice O. Martin; Jane C. S. Perrin; W. A. Muir; E. Ruch; Irwin A. Schafer


Book ID
119838489
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
493 KB
Volume
12
Category
Article
ISSN
0009-9163

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## Abstract We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high‐arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of gen