Autosomal dominant popliteal pterygium syndrome

The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum, inguinal hernia, hypoplasia or aplasia of the labia majora, and oral anomalies (such as cleft lip-palate, syngnathia and lower labial pits). There may also be filiform adhesion of the eyelids. This syndrome is but one of perhaps 20 or more that involve clefting of the lip and/or palate. It is inherited as an autosomal dominant trait with variable expressivity. Rarely is it transmitted from affected parent to offspring due to genital hypoplasia. The authors point out the importance of the awareness of the surgeon who corrects the popliteal pterygium since the sciatic nerve runs beneath the fibrous septum that forms the free edge of the pterygium.

Download Full-text

Popliteal pterygium syndrome: case report from rural India

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20202629 ◽

2020 ◽

Vol 7 (7) ◽

pp. 1627

Author(s):

Vasav D. Desai ◽

Gayatri S. Desai ◽

Nirav Raulji

Keyword(s):

Autosomal Dominant ◽

Rare Condition ◽

Ischial Tuberosity ◽

Incomplete Penetrance ◽

Autosomal Dominant Disorder ◽

Congenital Talipes Equinovarus ◽

Talipes Equinovarus ◽

Popliteal Pterygium Syndrome ◽

Genitourinary Anomalies ◽

Popliteal Pterygium

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is also known as faciogenitopopliteal syndrome. It is autosomal dominant disorder. It has highly variable expressivity and incomplete penetrance. The incidence of the popliteal pterygium syndrome is 1/300000, which makes it an extremely rare condition. The most striking characteristic of this syndrome is popliteal pterygium, which consists of a net of connective tissue spreading from the ischial tuberosity to the calcaneus.In this study, authors present the case of a 1 day old male patient with cleft upper lip, cleft palate, bifid scrotum, popliteal pterygium and congenital talipes equinovarus (CTEV).

Download Full-text

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

Download Full-text

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

Download Full-text

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

Download Full-text

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

Download Full-text

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.

Download Full-text