Ellis-van Creveld syndrome in two Filipino siblings /
Barbra Charina V. Cavan [and four others]
We describe two siblings who presented with features of Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia, a disproportionate short-limb dwarfism. They were born to a non-consanguineous Filipino couple. The older female child, who was examined at 6 years of age, had partial oligodontia on the upper anterior alveolar ridge with a short fixed frenulum between the inner upper lip and gum, a very large atrial septal defect (ASD) which was repaired at the age of 5 years, a long torso and short extremities, postaxial polydactyly on both hands with 5th digit clinodactyly, dysplastic and hypoplastic nailbeds on the fingers and toes, brachydactyly, and short stature. Her cognitive and gross motor development remained at par with age. Her radiologic findings which included short ribs, fusion of the capitate and hamate, cone-shaped epiphysis of the middle phalanges, and short tubular bones, were consistent with EvC syndrome. Orthopedic intervention was done to correct the genu valgum deformity while dental intervention included partial dentures fitted on her. The partial dentures had improved her facial profile, speech, and even her general disposition. The younger male sibling had a long neck, hyperextended back, a small chest circumference, and postaxial polydactyly. He died at 2 weeks of age due to respiratory complications from the narrow thoracic cage. The 38 y/o mother of both patients was counseled regarding the 25% recurrence risk, in line with the autosomal recessive pattern of inheritance of EvC syndrome. (Authors)