Ellis-van Creveld syndrome presenting in the second decade.

To cite: Yanamandra U, Sharma P, Ramamoorthy A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212209 DESCRIPTION A 19-year-old woman born to non-consanguineous parents presented with primary amenorrhoea. Examination revealed a 1.3 m tall patient with disproportionate dwarfism (arm-span/height—ratio: 0.78); she was polydactyl with hypoplastic/dystrophic nails (figure 1). She had partial anodontia, and abnormally shaded and mal-occluded teeth (figure 2). The rest of the systemic examination was unremarkable. Radiography of the hands revealed fusion of the carpal bones (figure 3). Echocardiography revealed patent foramen ovale with no flow. No haematological/biochemical abnormalities were detected. The patient’s history revealed no similar anomaly in the family. The patient could not afford genetic mutation analysis. Her clinical phenotype was characteristic of Ellis-van Creveld (EVC) syndrome. Anatomic evaluation of her reproductive tract, serum prolactin/ follicle stimulating hormone/luteinizing hormone/ growth hormone assays and brain MRI were normal. The primary amenorrhoea was unexplained despite follow-up for 5 years. EVC syndrome is an autosomal recessive disorder with prevalence of 1 in 60 000–150 000 secondary to mutation in EVC and EVC-2 genes on chromosome 4p16. Four distinctive features include (1) chondrodystrophy with average adult height between 109 and 155 cm; (2) polydactyly mostly involving the hands and, rarely, (10%) the feet; (3) ectodermal dysplasia presenting as tooth and nail abnormalities, reported in 93% of published cases. Tooth abnormalities include neonatal/ maloccluded/small/abnormally shaded teeth with delayed eruption and partial anodontia. Nail