Popliteal pterygium syndrome: a phenotypic and genetic analysis.

Ankyloblepharon filiforme adnatum.

“…Gorlin et al (1968) also suggested that the syndrome was inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. The same view was expressed in a recent phenotypic and genetic analysis of the popliteal pterygium syndrome by Escobar and Weaver (1978). They reviewed a number of pedigrees and stressed that the few documented familial cases showed a wide variation in gene expression in affected relatives.…”

Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome

“…The popliteal pterygium syndrome (PPS) is a rare autosomal dominant condition with variable expressivity and incomplete penetrance, characterized by a spectrum of anomalies involving orofacial, genital and musculoskeletal tissues (Audino et al, 1984;Escobar and Weaver, 1978;Gorlin et al, 1968). The calculated incidence of this syndrome is 1 per 300 000 newborns (Bixler et al, 1973;Froster-Iskenius, 1990).…”

“…The calculated incidence of this syndrome is 1 per 300 000 newborns (Bixler et al, 1973;Froster-Iskenius, 1990). The minimal diagnosis criteria for PPS are any three of the following: (1) cleft lip/palate, being present in 91±97% of cases (Gorlin et al, 1968); (2) popliteal pterygium, reported to occur in 70±96% of cases (Escobar and Weaver, 1978;Hunter, 1990); (3) paramedian lower lip sinuses, found in 46% (FrosterIskenius, 1990); (4) genital anomalies; and (5) toenail anomalies. Other ®ndings may be ankyloblepharon ®liforme, syngnathia or intraoral webbing, hypodontia and diverse anomalies of the digits of hands or feet, including 2±3 partial syndactyly, and skeletal abnormalities involving vertebrae or the feet.…”

“…The genetic defect causing this syndrome remains unknown and most cases are new mutations, although familial cases have been described (Escobar and Weaver, 1978;Soekarman et al, 1995). Since the ®rst description by Tre Âlat in 1869, more than 80 sporadic cases and at least 20 families with the disorder have been reported (Tre Âlat, 1869).…”

Popliteal pterygium syndrome (PPS) with intra-alveolar syngnathia: A discussion of anesthetic and surgical considerations

“…PPS, also known as faciogenitopopliteal syndrome [2], is of autosomal dominant inheritance with incomplete penetration and variable expression [3]. A nonsense mutation in the gene encoding for the interferon regulatory factor 6 (IRF6) at chromosome 1q32-q41 has been implicated in the etiology [4].…”