Brief clinical report: New case of Bartsocas-Papas syndrome surviving at 20 months

A. Giannotti, M. C. Digilio, L. Standoli, M. Zama, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

Original languageEnglish
Pages (from-to)733-735
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume42
Issue number5
Publication statusPublished - 1992

Keywords

  • ankyloblepharon
  • autosomal recessive inheritance
  • facial clefts
  • popliteal pterygium syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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