title: Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.
abstract: Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited sublethal popliteal pterygium condition characterized by intrauterine or neonatal death, severe popliteal webbing, oligosyndactyly, ankyloblepharon, orofacial clefts, intraoral filiform bands and genital anomalies. Internal organ involvement has seldom been identified. We report on a 3 years old female patient of healthy first cousin parents with BPS. She presented with orofacial clefting, severe popliteal webs, club feet, oligosyndactyly of the toes, hypogenitalism and normal hands and internal organs. Ankyloblepharon and filiform bands between the alveolar ridges were evident at birth. Pedigree analysis revealed a more severely affected female sib, who died a few minutes after birth with additional manifestations including near complete lip fusion without oral cleft, complete syndactyly in both hands and an omphalocele. Linkage was excluded to the IRF6 gene; a candidate gene implicated in the Van der Woude and popliteal pterygium syndromes, with overlapping features with BPS. To our knowledge, this is the 5th surviving patient with this syndrome in the literature. In this report, we also discuss the proposed pathogenetic mechanisms for BPS and compare our patients with similarly described cases as well as overlapping spectrum of other popliteal pterygium syndromes. Our findings provide further evidence of intrafamilial clinical heterogeneity in families with BPS.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt. mszaki60@internetegypt.com
authors.forename: M S
authors.initials: MS
authors.lastname: Zaki
authors.forename: A K
authors.initials: AK
authors.lastname: Kamel
authors.forename: L K
authors.initials: LK
authors.lastname: Effat
authors.forename: M O
authors.initials: MO
authors.lastname: El-Ruby
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D004534:Egypt; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D010375:Pedigree
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors