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Thomas syndrome: Potter sequence with cleft lip/palate and cardiac anomalies

✍ Scribed by Zlotogora, Joël; Ariel, Ilana; Ornoy, Asher; Yagel, Simcha; Eidelman, Arthur I.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
20 KB
Volume
62
Category
Article
ISSN
0148-7299

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✦ Synopsis

Holzgreve et al. [Am J Med Genet 18177-184, 19841 first reported on a syndrome including renal anomalies, heart defect, polydactyly, and cleft palate with other oropharyngeal anomalies. W e report here on four sibs with renal adysplasia associated in two with cardiovascular malformations and cleft lip or cleft palate in two. W e propose that these patients as the two siblings reported by Thomas et al. [Am J Med Genet 45767-769, 19931 are affected with a syndrome different of the one described by Holzgreve et al. [Am J Med Genet 18:177-184,19841 mainly because of the absence of polydactyly. Thomas syndrome is probably inherited as an autosomal recessive trait with marked variability.

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