Cleft‐palate lateral synechia syndrome: Insight into the phenotypic spectrum of Fryns syndrome?

Abstract

This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).

Epithelial integrity in palatal shelf elevation

“…Moreover, recent findings suggest that proper differentiation of the oral epithelium provides epithelial integrity for palatal elevation, and the loss of epithelial integrity results in ectopic epithelial fusion, leading to inhibition of palatal shelf elevation. These findings possibly imply human condition of intraoral synechiae associated with the development of cleft palate [5][6][7]. However, mechanisms responsible for this anomaly have not been elucidated, although in mice, the presence of oral epithelial fusion in some mutant mice strains has been reported [8][9][10][11][12][13].…”

Cleft palate lateral synechia syndrome: An opportunity for unique surgical closure

“…Jaeger at el. [7] reported two cases of Fryns syndrome with intra-oral synechia. One case was a child with hydrocephalus which exhibited the classic findings of CPLS.…”

“…The children's common mother also reports that she had a cleft palate as a child but cannot confirm or deny the presence of any intra-oral bands. The differential diagnosis of cleft palate with intra-oral bands includes congenital alveolar synechia syndrome, Van der Woude syndrome (VWS), popliteal pterygium syndrome (PPS), CPLS syndrome, and Fryn's syndrome [7]. These syndromes vary slightly in the location of the intra-oral synechia and the structures to which the synechia attach.…”

“…Since 1979, 74 cases have been reported and the definition has been expanded to include other abnormalities. The survival rate is 16% and 90% of survivors have severe mental retardation [7]. Jaeger at el.…”

Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

“…The classic phenotype of Fryns syndrome (MIM #229850) includes abnormal facial features, variable diaphragmatic hernia, hypoplastic distal limb anomalies, cardiovascular, gastrointestinal, genitourinary, and central nervous system anomalies [Fryns et al, 1979; Table I in Jaeger et al, 2003; Slavotinek, 2004]. More favorable neurodevelopmental outcome has been associated with the absence of diaphragmatic hernia [Vargas et al, 2000].…”