title: Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.
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, ankyloblepharon, 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.
authors: Department of Clinical Genetics, University Hospital Groningen, Groningen, The Netherlands. i.veenstra-knol@medgen.azg.nl
authors: Hermine E
authors: HE
authors: Veenstra-Knol
authors: Arianne
authors: A
authors: Kleibeuker
authors: Albertus
authors: A
authors: Timmer
authors: Leo P
authors: LP
authors: ten Kate
authors: Anthonie J
authors: AJ
authors: van Essen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000028:Abortion, Induced; D019465:Craniofacial Abnormalities; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands; D010375:Pedigree; D013577:Syndrome