Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

HE Veenstra-Knol*, A Kleibeuker, A Timmer, LP ten Kate, AJ van Essen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)

Abstract

Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankylo-blepharon, hypoplastic nose, orofacial clefts, and small mouth. Until now at least 23 cases with this syndrome in 11 families were described, mostly from Mediterranean origin. We report on two Dutch families with six affected children having BPS. One of the patients was prenatally diagnosed by ultrasound examination. Additional unreported findings were omphalocele and aplasia of the urethra. The intrafamilial resemblance in severity is of importance for the genetic counseling of families and prenatal detection by ultrasound. We discuss possible pathogenic mechanisms and review similar cases from the literature. (C) 2003 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)243-248
Number of pages6
JournalAmerican Journal of Medical Genetics. Part A
Volume123A
Issue number3
DOIs
Publication statusPublished - 15-Dec-2003

Keywords

  • Bartsocas-Papas syndrome
  • lethal pterygium syndrome
  • atretic mouth
  • prenatal diagnosis
  • omphalocele
  • absent urethra
  • apoptosis
  • POPLITEAL PTERYGIUM SYNDROME
  • AUTOSOMAL RECESSIVE FORM
  • P53 HOMOLOG
  • P63
  • MUTATIONS
  • VARIANT
  • LIMB
  • EEC

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