ABSTRACT
Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.
Subject(s)
Abnormalities, Multiple/genetics , Cleft Lip/genetics , Cleft Palate/genetics , Cysts/genetics , Lip/abnormalities , Scrotum/abnormalities , Cleft Lip/surgery , Foot Deformities, Congenital , Germ-Line Mutation , Humans , Infant, Newborn , Interferon Regulatory Factors , Male , Orchiopexy , Pedigree , Scrotum/surgeryABSTRACT
Azithromycin (Zithromax, Pfizer Inc., New York, NY, USA) is effective in the control of blinding trachoma. Community-based azithromycin treatment is recommended by the World Health Organization as part of a multipronged strategy aimed at the global elimination of binding trachoma by the year 2020. Paediatric trachoma is treated with azithromycin according to weight at a target dosage of 20 mg/kg. However, conventional weight-based treatment may be problematic in the field due to the logistical difficulties associated with weight scales. We assessed the accuracy of using height as a proxy for weight to determine azithromycin treatment in 4 countries--Viet Nam, Tanzania, Ghana, and Mali--where mass treatment programmes are underway. Population-based data collected from 1988 to 2000 were analysed using least squares regression. Height treatment schedules were developed for each data set. The accuracy of each schedule was evaluated according to the percentage of children receiving treatment within a dosage range of 20-30 mg/kg, a conservative estimate of the safe and effective treatment range for paediatric trachoma. Using height to determine dose, 89-95% of children would receive a dosage of 20-30 mg/kg. In these populations, height-based treatment is a reliable alternative to conventional weight-based treatment. Methods for developing height schedules presented in this analysis could be applied to other regions and therapeutics.
