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.

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

“…Additional findings previously reported in the literature were also noted in the case such as hyperteloism with upward slanting of palpebral fissure, eyelid colobomas, salivary pits, transverse groove at the chin, widely spaced nipples, short sternum, and stenotic anal orifice [2, 6]. Contrary to the frequent reporting of IUGR [2, 6] and low birth weight in cases of BPS, our case was born with an average birth weight. …”

“…Although the presence of skin tags has been previously described in BPS cases, they were all found at the chest [2, 8]. Here, in addition to five skin tags noted over the chest, other tags were found at the right palm and at the right labia minora; unusual sites that have not been reported in the literature.…”

“…He had microphthalmia, with short and narrow palpebral fissure, sparse lower eyelashes, hypoplastic thumbs and complete syndactyly, all of which are uncommon dysmorphic features that could be in BPS. However, he did not present with pterygia, the cardinal feature present in the majority of cases of BPS [2, 6]. The case survived to adolescence although it is well known that the BPS is a lethal syndrome with very few case reports of patients who survived beyond infancy [3, 4].…”

“…Most affected cases die perinatally or few months after birth [2], although occasional survival has been reported [3, 4]. Since its first description in 1972 [1], BPS has been diagnosed repeatedly in literature with 24 cases reported up till now, mostly of Mediterranean ancestry [5, 6].…”

“…Since its first description in 1972 [1], BPS has been diagnosed repeatedly in literature with 24 cases reported up till now, mostly of Mediterranean ancestry [5, 6]. In 1998, Massoud et al [2] reported the first Arab family with BPS. Here, we report the first family from Egypt with two typical cases and some unusual interesting presentation in the uncle case.…”