Ellis-van Creveld syndrome

Abstract

Introduction: Ellis-van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition. Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported. Case report: The boy, aged two (2) years and eight (8) months, lives with parents and two brothers, in good living conditions. From the perinatal anamnesis, we can see that it is the third child from the third monitored pregnancy, delivered naturally at 39.gestational weeks, with normal birth parameters (3980/51/36), Apgar score 9. Immediately after birth, has been spotted complete postaxial polydactyly on both hands and postaxial poly-syndactyly (3,4,5,6) on the left foot, and ultrasound of the hips in early infancy indicated their unusual morphology and delayed bone maturation, which led to further medical investigation and treatment. Conclusion: Ellis-van Creveld syndrome is an extremely rare disease (this is the first registered case in our country). On the basis of this case, we want to express the importance of early diagnosis in order to improve the prognosis of the disease, and necessity of careful monitoring of these patients.