Abstract
Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits. Popliteal pterygium syndrome (PPS), also known as a fasciogenito-popliteal syndrome or popliteal web syndrome is a rare autosomal dominant disorder with an incidence of approximately 1 in 300,000 live births. The most common clinical manifestations are popliteal webbing, cleft palate, cleft lip, syndactyly, and genital and nail anomalies. This report describes the clinical features in one case with positive family history, showing the range of anomalies found in popliteal pterygium with VWS.
Highlights
Van der Woude syndrome (VWS) is present in about 2% of all patients with cleft lip and/or palate with a prevalence of approximately 3.6/100,000 of live births
Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene
VW syndrome-affected children are born with a cleft lip or palate, hypodontia, and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits
Summary
Van der Woude syndrome (VWS) is present in about 2% of all patients with cleft lip and/or palate with a prevalence of approximately 3.6/100,000 of live births. The patient’s parents decided to have no children in the future. On physical examination, she had deformities in both lower extremities and joints (Figure 1) and alopecia totalis (Figure 2). Written consent was obtained from the parent and the patient was given 15mL/Kg of packed RBCs along with oxygen as supportive therapy. The patient’s Hb was rechecked after the treatment and it was 9.6 g/dL She was discharged with the advice of regular follow-ups, dietary advice, and timely investigations. The parents were counseled about the patient’s prognosis and referred to speech therapy
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