Discussion in 'Spot Diagnosis' started by neo_star, Mar 2, 2013.
Popliteal Pterygium Syndrome
Popliteal pterygium syndrome.
Answer: Popliteal Pterygium Syndrome
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome.
Clinical expressions of PPS are highly variable, but include the following:
Limb findings: an extensive web running from behind the knee down to the heel (90%), malformed toenails, and webbed toes.
Facial findings: cleft palate with or without cleft lip (75%), pits in the lower lip (40%), and fibrous bands in the mouth known as syngnathia (25%).
Genital findings (50%hypoplasia of the labia majora, malformation of the scrotum, and cryptorchidism.
Various modalities have been tried in the treatment of this condition. The treatment of web is difficult because of presence of short sciatic nerve in the free edge of the web. For extension of the knee, surgery resection of the fibrous bands, freeing of sciatic nerve, Z-lengthening of the Achilles tendon and multiple Z-plasties have been done with successful results.
Van der Woude syndrome
Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are allelic variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito-urinary malformations.
Discussion of the case presented in the challenge
A one-month-old female child weighing 2.7 kg presented with bilateral web over the popliteal region. The clitoris was hypertrophied and a single urogenital opening was present. The facies were normal. A clinical diagnosis of Popliteal Pterygium syndrome was made. An abdominal ultra-sound revealed small displaced kidneys, small bladder, and uterus could not be visualized. The cranial ultrasound was normal.
ref - Indian Pediatrics 2006; 43:450-451
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