Prenatal diagnosis of a Turkish Bartsocas–Papas syndrome case with upper limb pterigia

Ceylaner, Gülay; Güven, Melih; Ceylaner, Serdar; Üzel, Murat; Muftuoglu, Kamil Hakan

doi:10.1002/pd.1723

Cited by 3 publications

(5 citation statements)

References 11 publications

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“…Besides the huge popliteal webs, our case also showed multiple webs involving the upper limbs; particularly a clinically evident axillary web. Indeed, this finding is not typical of BPS cases as most of the previously reported cases did not have upper extremity webs [9]. Nonetheless, axillary webs were described as an interesting additional finding by Aslan et al [10] and by Veenstra-Knol et al [6].…”

Section: Discussionmentioning

confidence: 93%

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

Abdalla

Morsy

2011

Case Reports in Genetics

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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.

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Section: Discussionmentioning

confidence: 93%

“…Nonetheless, axillary webs were described as an interesting additional finding by Aslan et al [10] and by Veenstra-Knol et al [6]. Accordingly, it has been proposed that axillary web may be one of the rare features of this syndrome [9]. …”

Section: Discussionmentioning

confidence: 99%

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

Abdalla

Morsy

2011

Case Reports in Genetics

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“…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, 4-6]. 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.…”

Section: Discussionmentioning

confidence: 99%

“…Parents were nonconsanguineous, derived from different Bedouin tribes in Qatar and the United Arab Emirates. In another case study from Turkey [6], the fetus had severe lower limb findings, classical facial features of the syndrome, but less severe upper limb involvement. BPS is fatal in the newborn period in most cases.…”

Section: Discussionmentioning

confidence: 99%

Bartsocas-Papas Syndrome: Case Report

Nikhat¹,

Fernandes²,

Mashharawi³

et al. 2022

Dubai Med J

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Bartsocas-Papas syndrome (BPS) is a rare form of autosomal recessive disease, which is often severe and most of the time lethal. Only a few cases have been reported in the literature, so far mainly from the Mediterranean ancestry. We are describing here a case of severe form of BPS, which we encountered in our hospital in Dubai, UAE, which was diagnosed by antenatal scan; the baby had typical features of BPS and died immediately within few hours of life. Parents were first-degree consanguineous couples, and there was a family history of this disorder.

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“…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).…”

Section: Introductionmentioning

confidence: 99%

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

Dinçer

Gümüş

Toraman

et al. 2021

American J of Med Genetics Pt A

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Bartsocas‐Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor‐interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development. RIPK4 variants are associated with a wide range of clinical features ranging from milder ectodermal dysplasia to severe BPS. Here, we evaluated a consanguineous Turkish family, who had two pregnancies with severe multiple malformations compatible with BPS phenotype. In order to identify the underlying genetic defect, direct sequencing of the coding region and exon‐intron boundaries of RIPK4 was carried out. A homozygous transversion (c.481G>C) that leads to the substitution of a conserved aspartic acid to histidine (p.Asp161His) in the kinase domain of the protein was detected. Pathogenicity predictions, molecular modeling, and cell‐based functional assays showed that Asp161 residue is required for the kinase activity of the protein, which indicates that the identified variant is responsible for the severe BPS phenotype in the family.

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Prenatal diagnosis of a Turkish Bartsocas–Papas syndrome case with upper limb pterigia

Cited by 3 publications

References 11 publications

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

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

Bartsocas-Papas Syndrome: Case Report

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

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