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Syndrome de Feingold

✍ Scribed by J.L. Alessandri; D. Graber; I. Tiran-Rajaofera; A. Montbrun; H. Pilorget; S. Samperiz; T. Attali; S. de Napoli-Cocci


Book ID
117631365
Publisher
Elsevier Science
Year
2000
Tongue
French
Weight
461 KB
Volume
7
Category
Article
ISSN
0929-693X

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Imperforate anus in Feingold syndrome
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A father and daughter had the characteristic findings of Feingold syndrome including microcephaly, short palpebral fissures, brachydactyly with clinodactyly of fifth fingers, and bilateral syndactyly of second to third and fourth to fifth toes. The infant presented with long-gap esophageal atresia w

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Genotype–phenotype correlations in MYCN-
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## Communicated by Iain McIntosh Feingold syndrome (FS) is the most frequent cause of familial syndromic gastrointestinal atresia and follows autosomal dominant inheritance. FS is caused by germline mutations in or deletions of the MYCN gene. Previously, 12 different heterozygous MYCN mutations and

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We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, an