Institution: | 1. https://orcid.org/0000-0003-4488-8198;2. Department of Paediatrics & Child Health, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania;3. Marieke C. J. Dekker, Department of Paediatrics & Child Health, Kilimanjaro Christian Medical Centre, PO Box 3010, Moshi, United Republic of Tanzania.;4. Department of Radiology, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania;5. Department of Orthopaedic Surgery, Kilimanjaro Christian Medical Centre, Moshi, United Republic of Tanzania;6. Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands;7. Clinic for Special Children, Strasburg, Pennsylvania;8. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
Abstract: | We report an African infant with Ellis‐van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub‐Saharan Africa. |