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

Joël Zlotogora, Ilana Ariel, Asher Ornoy, Simcha Yagel, Arthur I. Eidelman

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Holzgreve et al. [Am J Med Genet 18:177-184, 1984] first reported on a syndrome including renal anomalies, heart defect, polydactyly, and cleft palate with other oropharyngeal anomalies. We report here on four sibs with renal adysplasia associated in two with cardiovascular malformations and cleft lip or cleft palate in two. We propose that these patients as the two siblings reported by Thomas et al. [Am J Med Genet 45:767-769, 1993] are affected with a syndrome different of the one described by Holzgreve et al. [Am J Med Genet 18:177-184, 1984] mainly because of the absence of polydactyly. Thomas syndrome is probably inherited as an autosomal recessive trait with marked variability.

Original languageEnglish
Pages (from-to)224-226
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume62
Issue number3
DOIs
StatePublished - 29 Mar 1996
Externally publishedYes

Keywords

  • Potter sequence
  • Thomas syndrome
  • cleft lip/palate
  • heart malformations
  • syndrome

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