Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease.
A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on each foot. There is posterior dislocation at the knees and mild tibial dysplasia. The child also has a ventricular septal defect (VSD) and Hirschsprung's disease. This is the first case reported of Werner's mesomelic dysplasia associated with systemic malformations.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006345:Heart Septal Defects, Ventricular / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008531:Megacolon / Q000150:complications*; D011859:Radiography; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities