Ellis-van Creveld syndrome

Vol. 47 No. 4, 2006


Corina Lichiardopol, C. Militaru

Ellis-van Creveld syndrome is a rare autosomal recessive disorder caused by mutations in the EVC and EVC2 gene (4p16), characterized by chondrodystrophy, postaxial polydactyly, ectodermal dysplasia and cardiac anomalies. We present the case of a 24-year-old female patient with unaffected parents and an affected sister, with a personal history of surgically corrected postaxial polydactyly of both hands and atriventricular canal. Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth, diffuse alopecia, atrioventricular canal, hypoplastic mammary glands and a small goiter. Radiologic evaluation revealed short metacarpals and phalanges, capitat and hamat fusion on the left, left ulnar epiphysis with areas of osteolysis and osteocondensation, genu valgum, short fibulae, narrow thorax, cardiac enlargement with hilar congestion. Echocardiogram showed absence of the atrial sept and the basal portion of the ventricular sept and electrocardiogram - right bundle branch block, left anterior fascicular block and left ventricular hypertrophy. Free thyroxin, TSH and usual laboratory parameters were in the normal range with exception of ionic calcium which was low (3.8 mg/dL).

Corresponding author: Corina Lichiardopol, MD, PhD, e-mail: corinalich@gmail.com

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