Ellis-Van Creveld syndrome is a very rare congenital disorder which its principal features are polysyndactyly, chondrodysplasia, cardiac abnormalities and ectodermal dysplasia. We report a 10-year-old girl with major manifestations of this syndrome who also had multiple brownish macules and patches on trunk and extremities with aortic and pulmonary stenosis in echocardiographic evaluations.

ellis-van creveld sydrome (chondroectodermal dysplasia) is a hereditary form of short limb disproportionate dwarfism characterized by diffuse involvement of skeletal system and visceral organs. two brothers affected by this syndrome are presented here following a brief account of the disease's manifestations.

Ellis-van Creveld syndrome is transmitted as an autosomal recessive trait. This syndrome is accompanied in 60% of cases with congenital heart disease, mostly single atrium or large ASD. Patients are mostly symptomatic, but in this rare case despite 68 years of age, the patient was free of symptoms except for complete heart block for which pacemaker was inserted

A six year old child with symmetric polydactyly of both hands and genu valgum deformity was referred for radiographic assessment. On physical examination, there were six digits in both hands with dysplastic finger nails. The upper and lower extremies were shortened out of proportions to the trunk with genu valgum deformity. Radiograph of hands revealed bifid 5th metacarpals and complete duplica...

ellis–van creveld (evc) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. in the present article, we hereby present a case of a 13‑year‑old girl of indian ethnicity with evc syndrome with a remarkable number of classical oral and ...

Submit Manuscript | http://medcraveonline.com by a mutation to interferon regulatory factor 6 on chromosome I [2]. They describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome [2]. Typical blind fistulas of the lower lip,...

1K Rajendra, 2TK Ramamurthy, 3K Gopikrishna, 4GV Ramachandra Reddy, 5K Srinivas, 6S Patil 1Postgraduate Student, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 2,4Professor, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Karnataka, India 3Senior Lecturer, AECS Maaruti College of Dental Sciences and Research Center, Bengaluru, Ka...

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...

A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.