Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities.

摘要

Introduction Congenital contractural arachnodactyly (CCA) is a dominantly inherited syndrome in which affected individuals have arachnodactyly, kyphoscoliosis, multiple joint contractures and crumpled ears (Tuncbilek and Alanay, 2006). We report a child with the initial diagnosis of CCA with iris coloboma, and additional dysmorphic features, such as blepharophimosis and beaked nose, usually observed in Van den Ende-Gupta syndrome (VDEGS) (Schweitzer et al, 2003). Case report The patient was the first child of a nonconsanguineous healthy couple. The mother had smoked during pregnancy. Delivery at term was normal. At birth unilateral corectopia, deformed ears, contractures of elbows and camptodactyly were observed. Psychomotor development was normal. At 1 year and 6 months the patient had a height of 79 cm (3rd centile), weight of 10 400 kg (10th centile), head circumference of 48 cm (50th centile) and palpebral fissures of 2.1cm (below 3rd centile). Dysmor-phologic examination revealed (Fig. 1) dolichocephaly, prominent forehead, blepharophimosis, malar hypoplasia, high-arched palate, micrognathia and crumpled ears.