Rare Expression Of Van Der Wound Syndrome: A Case Report Revisited

Background: Van der Woude syndrome (VWS) is a rare developmental malformation, characterized by pits in the lower lip. Van der Woude syndrome is an autosomal dominant craniofacial syndrome with various expression: lower lip pits, cleft lip with or without cleft palate, syngnathia, hypoodontia, and ankyloglossia. Extra-oral abnormalities findings can be found: syndactily, corpus callosum dysgenesis, megacolon, ventricular septal defect and genital abnormality. Methods: We reported a case of 5-month-old male with rare expression of VWS: bilateral cleft lip and palate, syngnathia, lower lip pits, ptosis of upper left eyelid and macropenis. Results: We perform surgery to release the fibrous band to achieve satisfactory maximum mouth opening. Next we perform cheiloplasty and lower lip pit removal. Conclusion: Proper surgical intervention in VWS patients can improve feeding and prevent further temporomandibular complications. Careful examination of patients with cleft lip and lower lip pit should be done to avoid misdiagnosis.

Consultation with the specialist

Introduction The term cryptorchidism originates from the Greek kryptos (concealed) and orchis (testis). The definition of the term cryptorchidism is appropriate; not only is the testis concealed, but so is much information regarding this common condition. More than 200 years ago, John Hunter described descent of the testis during the last 3 months of gestation and reported that testes that remain in the abdomen are unhealthy and do not function well. He also discussed the possibilities of failure to descend causing testicular abnormality and testicular abnormalities causing failure to descend. Cryptorchidism represents the most common genital abnormality seen by pediatric urologists. The incidence is 1 in 125 boys. The incidence is much higher in premature infants (1 in 3), and the lower the birth weight, the greater the incidence of cryptorchidism. This condition is seen in approximately 1 in 30 full-term infants, but in many of them, the testicles will descend during the first few months of life. There is a higher incidence of cryptorchidism associated with many chromosomal and single gene defects as well as with multiple malformation syndromes. In addition, there is a higher incidence of cryptorchidism in the siblings and sons of those who have or had cryptorchidism. We will describe the anatomy of both the cryptorchid and retractile testis and discuss the embryology of testicular descent, with an emphasis on hormonal factors.