Catheterization study- classical Goose Neck deformity (Figure 7) due to elongated left ventricular outflow tract in left ventricular angiogram. The saturation run showed significant step up in right atrium with QP/QS- 5.05. Mean pulmonary artery pressure was recorded as 26mm Hg.
EVC syndrome belongs to a the short rib polydactyly group (SRP’s) which includes Verma – Naumoff syndrome, Jeune dystrophy, Mekusick- Kaufman syndrome and Weyers syndrome, Beemer- Langer syndrome, Saldino- Noonan syndrome and Ellis Van Creveld syndrome. These short rib polydactyly group are usually among the differential diagnosis in the pernatal and postnatal period.(5)
The parents are the carriers of the mutation and there is 25% chance of further pregnancies resulting in a child with a similar problem.(5) Our patient was born to a consanguineous marriage with no similar illness among the siblings or her parents.
Chondrodysplasia means disproportionate dwarfism i.e., normal trunk with symmetrical shortening of distal extremities. Thoracic dysplasia leads to frequent respiratory infections.(3) Our patient had frequent chest infections primarily due to acyanotic heart disease with left to right shunt and was a dwarf (Figure 1) with a height of 135cms. There was no lumbar lardosis or genu valgum or pectus carinatum in the patient which could also be seen as a result of chondrodysplasia.
She had classical polydactyly (Figure 2) of Ellis Van Creveld syndrome involving both the hands on the postaxial side. There was no polydactyly of the foot which is also present in 10% of the patients. There was no syncarpalism or synmetacarpalism(3) in her which could also be possible. She could not make tight fist3 like other patients of Ellis Van Creveld syndrome.
Ectodermal dysplasia in this patient lead to multiple frenulae connecting the lower lip to the gingiva(Figure 3), peg teeth(Figure 4) and high arched palate.(3) There was no natal or congenitally missing teeth but they were microdontic in nature.(4) She had dysplatic nails in both hands and feets (Figure 2) as seen in classical patient.
Cardiac manifestations are seen in 50-60% of cases.(5) Patient had a complete atrioventricular canal defect which is the most common congenital abnormality seen in 40% of cases followed by a ventricular septal defect or a patent ductus arteriosus.(3)
Liver and Central nervous system abnormalities could also occur rarely in Ellis Van Creveld syndrome. Other genitourinary anomalies like renal agenesis, renal tubular dilatation, nephrocalcinosis, megaureters, vulvar atresia.
50 % patients with Ellis Van Creveld syndrome usually die at infancy due to recurrent respiratory infections.(3) Those without any cardiac abnormality may have a normal life expectancy. This patient who has a complete atrioventricular canal defect has survived till 19 years without any significant pulmonary artery hypertension is quiet uncommon.
Ellis van Creveld syndrome is a rare disease in Indian population. This case report describes a 19 year old young female with Ellis van Creveld syndrome with complete atrioventricular canal defect who had a relatively asymptomatic childhood who presented in her late adolescence without any severe symptoms whose defect is still repairable.
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