Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

14 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)243-248
Aantal pagina's6
TijdschriftAmerican Journal of Medical Genetics. Part A
Volume123A
Nummer van het tijdschrift3
DOI's
StatusPublished - 15-dec-2003

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