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

Abstract

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

“…Recently, a consanguineous Egyptian family (BPS3) with one affected and two healthy siblings was referred to us (Figure 3C and Table 1). 18 The 3.5-month-old affected individual had total absence of body hair and multiple pterygia in almost all joints of the body, including shoulders, elbows, wrists, hips, knees, and ankles. A very large and thick popliteal pterygium and severe distortion of both lower limbs was observed.…”

Bartsocas-Papas Syndrome: Case Report

“…Mothers' genetic testing revealed that she is a heterozygous carrier of the familial RIPK4 variant. A few authors from different countries have reported BPS cases with similar features and various manifestations [1,[4][5][6]. A case study [5] reported on 4 Arab sibs with manifestations of this syndrome and also had some additional traits that included cutis aplasia, widely spaced nipples, low-set umbilicus, and unilateral renal hypoplasia.…”

“…There can be widely variable degrees of manifestations with which those carrying the mutation may be affected [4]. Almost all affected babies die in utero or infancy [1, 5]. This reported case from Dubai, United Arab Emirates, had severe craniofacial abnormalities, pterygia of body joints, ambiguous genitalia, imperforate anus, and a dry thick skin.…”

“…The condition is usually more severe and often lethal, and most of the affected patients die in utero or shortly after birth. It is often fatal in the neonatal period, but patients living until childhood have been reported [1]. The reported prevalence is <1/1,000,000.…”

A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome

“…BPS is a rare autosomal recessive disorder characterized by severe congenital malformations, including severe popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, syndactyly, and genital malformations. Most of the BPS cases were fatal either in the prenatal or neonatal period (Abdalla & Morsy, 2011; Aslan et al, 2000; Bartsocas & Papas, 1972; Ceylaner et al, 2007; Dolan et al, 2003; Hall et al, 1982; Martinez‐Frias et al, 1991; Massoud et al, 1998; Papadia et al, 1984; Veenstra‐Knol et al, 2003). However, there are reports showing that some individuals have survived into childhood or beyond via intensive medical care (Erturan et al, 2016; Kalay et al, 2012; Mitchell et al, 2012).…”