Secondary Nerve Lengthening to Obtain Full Knee Extension in Popliteal Pterygium Syndrome

Popliteal pterygium syndrome (PPS) is an extremely rare autosomal dominant disorder, characterized by the cleft palate with or without cleft lip, limbs abnormalities with highly characteristic features of popliteal webbing, syndactyly, and genital abnormalities and nail anomalies. Prenatal diagnosis of PPS has been extremely rare. We describe a unique case of fetal PPS at 20 weeks of gestation. The diagnosis of PPS was based on the ultrasound findings of bilateral popliteal webbings, extending from posterior aspects of the upper thighs through the lower legs, resulting in restriction in knee extension, bilateral equinovarus feet with syndactyly, ambiguous genitalia and the grooved lip. Anatomical structures were otherwise normal. Trio whole-exome sequencing revealed a de novo heterozygous IRF6 gene mutation in the fetus, confirming the diagnosis with PPS. In conclusion, popliteal webbing or combination of facial cleft or cleft variants and bilateral abnormal postures of the lower limbs is suggestive of PPS and genetic diagnosis should be warranted.

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Popliteal pterygium syndrome with unusual features

The Indian Journal of Pediatrics ◽

10.1007/bf02724282 ◽

2004 ◽

Vol 71 (3) ◽

pp. 269-270 ◽

Cited By ~ 1

Author(s):

C. K. Sasidharan ◽

K. V. Ravi

Keyword(s):

Popliteal Pterygium Syndrome ◽

Popliteal Pterygium

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Endoscopic Release of Intraoral Synechiae in Popliteal Pterygium Syndrome

Annals of Plastic Surgery ◽

10.1097/00000637-200211000-00018 ◽

2002 ◽

Vol 49 (5) ◽

pp. 550-552 ◽

Cited By ~ 2

Author(s):

Fabrizio Schonauer ◽

Ivan La Rusca ◽

Desiree Sordino ◽

Alessandro Settimi ◽

Guido Molea

Keyword(s):

Endoscopic Release ◽

Popliteal Pterygium Syndrome ◽

Popliteal Pterygium

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Popliteal pterygium syndrome

Oral Surgery Oral Medicine Oral Pathology ◽

10.1016/0030-4220(87)90333-1 ◽

1987 ◽

Vol 63 (1) ◽

pp. 17-20 ◽

Cited By ~ 6

Author(s):

Barry Steinberg ◽

Vernon Saunders

Keyword(s):

Popliteal Pterygium Syndrome ◽

Popliteal Pterygium

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Popliteal pterygium syndrome in a Swedish family-clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41

Acta Odontologica Scandinavica ◽

10.1080/000163500429334 ◽

2000 ◽

Vol 58 (2) ◽

pp. 85-88 ◽

Cited By ~ 7

Author(s):

Fung Ki Wong ◽

Britt Gustafsson

Keyword(s):

Genetic Analysis ◽

Clinical Findings ◽

Van Der Woude Syndrome ◽

Swedish Family ◽

Popliteal Pterygium Syndrome ◽

Popliteal Pterygium

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Popliteal Pterygium Syndrome with Special Consideration of the Cleft Malformation: Case Report

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_1992_029_0080_ppswsc_2.3.co_2 ◽

1992 ◽

Vol 29 (1) ◽

pp. 80-84 ◽

Cited By ~ 1

Author(s):

Hubertus Koch ◽

Magdalena Grzonka ◽

Josef Koch

Keyword(s):

Case Report ◽

Treatment Protocol ◽

Special Consideration ◽

Upper Lip ◽

Popliteal Pterygium Syndrome ◽

Popliteal Pterygium

This report describes a new case of popliteal pterygium syndrome (PPS) and also a treatment protocol. The patient presented with the complete complex of PPS and additional abnormalities that have not been described in the literature: a sinus of the upper lip, an extreme hypopoplastic prolabium with aplasia of the vestibule In this area, and a velar pterygium.

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