Ellis van Creveld: reporte de caso

Abstract

EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Ellis-Van Creveld Syndrome, neonatal teeth and breastfeeding impairment: a case report

“…Consanguinity is associated in approximately 30% of the reported EVCS cases, while other reports do not present this relation [5,20,21], as in our study. Chondrodysplasia is the most commonly reported clinical sign and is often diagnosed in the gestational period by ultrasonography [20,22].…”

“…Consanguinity is associated in approximately 30% of the reported EVCS cases, while other reports do not present this relation [5,20,21], as in our study. Chondrodysplasia is the most commonly reported clinical sign and is often diagnosed in the gestational period by ultrasonography [20,22]. In this report, the diagnostic hypothesis of dwarfism was raised at the 34th week of gestation by ultrasound, reinforcing the importance of prenatal follow-up.…”

“…The case here reported presented all the above-mentioned findings and others less frequent as: low-set ears, strabismus and flat hemangioma in the occipital region and left eyelid. Ectodermal disorders such as nail hypoplasia, fine hair, change in chronology of dental eruption, and presence of multiple braces and buccal flanges are commonly reported in patients with EVCS [5,20,21].…”