Bartsocas‐Papas syndrome in an Arab family with four affected sibs: Further characterization

Abstract

Bartsocas-Papas syndrome is a severe autosomal recessive popliteal pterygium syndrome. Other anomalies include microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal and nonectodermal anomalies. We report on four Arab sibs with manifestations of this syndrome and some additional traits that include cutis aplasia, widely spaced nipples, low-set umbilicus, and unilateral renal hypoplasia among others. One was stillborn, and the other three children lived 10-17 months. Parents were nonconsanguineous, derived from different Bedouin tribes in Qatar and the United Arab Emirates. Similar cases from the literature are reviewed.

Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome

“…The cases in this family have strong resemblance to the cases we reported as Bartsocas-Papas syndrome in an Arab family from Qatar [Massoud et al, 1998]. Certainly, they did not have the lethal multiple pterygium syndrome, simply because there was no pterygium involving the upper part of the body and the most prominent pterygium was that of the popliteal region.…”

“…Certainly, they did not have the lethal multiple pterygium syndrome, simply because there was no pterygium involving the upper part of the body and the most prominent pterygium was that of the popliteal region. This is in addition to the presence of ankyloblepharon, and other craniofacial anomalies, syndactyly of hands and feet, and bands characteristic of the Bartsocas-Papas syndrome [Francesco and Nicola, 1988;Hennekam et al, 1994;Massoud et al, 1998]. I concur with the editor's comment at the end of the paper by Aslan et al [2000] that this family most likely represents the Bartsocas-Papas syndrome, and I wonder to what extent we need to be splitters in the clinical delineation of syndromes!…”

The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600

“…The unusually clear and detailed description of the features makes it possible to suggest a diagnosis compatible with consanguinity and autosomal recessive inheritance, namely lethal pterygium syndrome with facial clefting, first described in modern times by Bartsocas and Papas2 (MIM 263650). Including a recent report of four affected Arab sibs,3approximately 20 cases have been described, not all of which have shown early lethality. Most reported cases have originated from the Mediterranean area, adding interest to this historical account from rural England where the first cousin parents were reliably indigenous.…”