Ravi Kumar Parihar1,2, Varun Kaul1,2, Sanjeev Kumar Digra1,2, Ghan Shyam1,2, Sandesh Ganjoo1,2
1Department of Pediatrics, SMGS Hospital, Government Medical College, Jammu, 2Department of Obstetrics and Gynaecology, Government Medical College, Tanda
Address for Correspondence: Dr. Sanjeev Kumar Digra, H No: 24 A, Pragati Nagar, Jammu- 18120.
Email: sanjeevahsaas@yahoo.co.in
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Discussion :
Popliteal pterygium syndrome. It is an autosomal dominant disorder due to mutation of the IRF6 gene affecting the face, limbs and genitalia. {1,2} It is also known as popliteal web syndrome and facio genito popliteal syndrome. Males and females are equally affected. The characteristic feature of this syndrome is a web extending from the heel to the ischial tuberosity which contains a palpable cord of connective tissue and occasionally the popliteal artery and peroneal nerve. Facial defects include cleft palate with or without cleft lip and fibrous band in mouth. Limb findings include web behind the knee, webbing of toes and toenail malformation while genital defects occur in the form of hypoplasia of labia majora, scrotum or cryptorchidism. These children do not have growth or intelligence disturbance. {1,3} Prenatal sonography might detect this syndrome by detecting a cleft lip or palate along with inability of the fetus to stretch the knee. The overall prognosis is good.
E-published: July 2012 Vol 9 Issue 7 Art # 42 | References : | - Froster-Iskenius UG. Popliteal pterygium syndrome. J Med Genet. 1990; 27: 320-326
- Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Gene. 2002; 32: 285–289
- Sasidharan CK, Ravi KV. Popliteal pterygium syndrome with unusual features. Indian J Pediatr 2004;74: 269–270
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| Correct Answers : |  26% |
Last Shown : Jul 2012
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