Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae.

Abstract

Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies. Affected infants usually die perinatally. The authors present an 8-month-old female infant with manifestations of this syndrome and some additional traits including fusion of the lips, intraoral filiform bands, alopecia totalis, and posterior fusion failure of the vertebrae. The fused lips were opened by incising the fibrotic bands closing her mouth. Details of this patient and a brief review of the literature is presented.