New case of Bartsocas‐Papas syndrome surviving at 20 months

Abstract

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

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

“…Besides the currently reported cases with Bartsocas-Papas syndrome (BPS) [Bartsocas and Papas, 1972;Di Stefano and Romeo, 1974;Hall et al, 1982;Papadia et al, 1984;Reich et al, 1984;Martínez-Frías et al, 1991;Giannotti et al, 1992], Hennekam et al [1994] added two sibs of Dutch ancestry with some findings in common with the BPS and the lethal multiple pterygium syndrome. The authors questioned whether their patients represent a distinct entity based on the presence of several internal anomalies in one and unilateral renal agenesis in the other, together with the absence of oral clefts and a ''marked'' popliteal webbing in him.…”

“…In 1972, Bartsocas and Papas reported on four sibs of third-cousin parents with a severe, presumably autosomal recessive form of popliteal pterygium syndrome. So far, at least 15 patients in eight families have been diagnosed, mostly from the Mediterranean basin [Di Stefano and Romeo, 1974;Hall et al, 1982;Papadia et al, 1984;Reich et al, 1984;Martínez-Frías et al, 1991;Giannotti et al, 1992]. An unpublished patient known to Dr. G. Turner was mentioned by Opitz [1988].…”

Treatment of Popliteal Pterygium Using an Ilizarov External Fixator

“…Bartsocas and Papas7) postulated that PPS can be inherited in an autosomal dominant and an autosomal recessive manner; autosomal dominant PPS is more common and it shows variable penetrance, but autosomal recessive PPS occurs in patients who are born to unaffected parents and it is associated with more severe anomalies and mental retardation. Yet according to the recent report of Giannotti et al,8) PPS is an autosomal dominant disorder that's caused by interferon regulatory factor 6 gene mutations. With regard to the autosomal recessive forms described by Bartsocas and Papas,7) Giannotti et al8) postulated that those cases should have been diagnosed as another disorder with symptoms that were similar but more severe than those of PPS.…”

“…Yet according to the recent report of Giannotti et al,8) PPS is an autosomal dominant disorder that's caused by interferon regulatory factor 6 gene mutations. With regard to the autosomal recessive forms described by Bartsocas and Papas,7) Giannotti et al8) postulated that those cases should have been diagnosed as another disorder with symptoms that were similar but more severe than those of PPS. The patient and all the other affected siblings described in the report by Bartsocas and Papas7) presented with more severe anomalies and they died within the first nine weeks of life.…”

Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia—central nervous system malformation syndrome

“…cas-Papas type, which is included in the 1-3 subgroup of the Pinheiro-Freire Maia classification of ectodermal dysplasias, lip pits or mounds, seen in the autosomal dominant popliteal pterygium/Van der Woude syndrome, are not observed [Giannotti et al, 1992].…”