[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type].

TL;DRAbstract

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and eyelashes, harsh voice and short hands and feet. Radiologically, they presented brachymetacarpalia, brachymetatarsalia, and brachyphalangia of all fingers and toes, shortened and broadened long bones with normal morphology, hypoplastic pelvis and shape anomalies of the vertebral bodies. The clinical and radiological concordance and the differential diagnosis, mainly with acromicric dysplasia, allow the characterization of a distinctive osteochondrodysplasia probably due to an autosomal dominant mutation.

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