Bartsocas-Papas Syndrome With Fusion of the Lips and Posterior Fusion Defects of the Thoracic Vertebrae

Me, Mavili; Karamürsel, Sebat; Vargel, İbrahim; Erk, Yücel

doi:10.1097/00000637-199910000-00018

Cited by 2 publications

(4 citation statements)

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“…Until now 23 children with BPS have been reported [Di Stefano and Romeo, 1974; Hall et al, 1982; Papadia et al, 1984; Reich et al, 1984; Cheirif et al, 1985; Martínez‐Frías et al, 1991; Gianotti et al, 1992; Hennekam et al, 1994; Massoud et al, 1998; Mavili et al, 1999; Shafeghati et al, 1999]. Although some data are lacking, all four of the Bartsocas–Papas patients [Bartsocas and Papas, 1972] and both sibs described by Reich et al [1984] and Cheirif et al [1985] were included.…”

Section: Discussionmentioning

confidence: 99%

“… +, present; −, absent; U, unknown; R, renal tract anomalies; T, hypoplastic tibia; A, anal atresia; E, esophageal atresia; D, hypoplastic diafragm; O, omphalocele; M, mouth atresia. References: Bartsocas and Papas [1972]; Di Stefano and Romeo [1974]; Hall et al [1982]; Papadia et al [1984]; Reich et al [1984]; Cheirif et al [1985]; Martínez‐Frías et al [1991]; Gianotti et al [1992]; Hennekam et al [1994]; Massoud et al [1998]; Mavili et al [1999]; Shafeghati et al [1999]. …”

Section: Discussionmentioning

confidence: 99%

“…It is interesting to note that case 6 did not show any clefting at the age of 16 weeks, nor did the fetus aged 17 weeks and the fetus added in proof at 16 weeks [Hennekam et al, 1994]. Only one liveborn BPS patient, described by Mavili et al [1999], presented with fusion of the lips without signs of orofacial clefting. All other BPS patients showed atypical oral clefts, usually associated with filiform bands, and not following the lines of embryologic fusion.…”

Section: Discussionmentioning

confidence: 99%

“…They postulated that this disorder was a severe autosomal recessive form of the popliteal pterygium syndrome. Since then another 19 children from ten families with Bartsocas–Papas syndrome (BPS) were described [Di Stefano and Romeo, 1974; Hall et al, 1982; Papadia et al, 1984; Reich et al, 1984; Cheirif et al, 1985; Martínez‐Frías et al, 1991; Gianotti et al, 1992; Hennekam et al, 1994; Massoud et al, 1998; Mavili et al, 1999; Shafeghati et al, 1999]. In this paper, we report on six affected children from two Dutch families.…”

Section: Introductionmentioning

confidence: 99%

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Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome

Veenstra‐Knol¹,

Kleibeuker²,

Timmer³

et al. 2003

American J of Med Genetics Pt A

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Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth. Until now at least 23 cases with this syndrome in 11 families were described, mostly from Mediterranean origin. We report on two Dutch families with six affected children having BPS. One of the patients was prenatally diagnosed by ultrasound examination. Additional unreported findings were omphalocele and aplasia of the urethra. The intrafamilial resemblance in severity is of importance for the genetic counseling of families and prenatal detection by ultrasound. We discuss possible pathogenic mechanisms and review similar cases from the literature.

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