Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech

Clinical Features

Cantu et al. (1991) described 2 unrelated patients, a 21-year-old male and an 11-year-old female, with a form of osteochondrodysplasia that was later called spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS), Fantasy Island syndrome, or Tattoo dysplasia (Cantu, 1995; Lachman, 2007). Features included dwarfism, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, harsh voice, and short hands and feet. Radiographically, the patients had brachymetacarpalia, brachymetatarsia, and brachyphalangia of all fingers and toes, shortened and broadened long bones with normal morphology, small pelvis, and shape anomalies of the vertebral bodies. The parents of both patients were nonconsanguineous.

Garcia-Cruz et al. (2007) described an affected mother-son pair and an additional patient with features similar to those of the patients reported by Cantu et al. (1991). The proband of the first family was an 18-year-old male who was the second pregnancy of nonconsanguineous parents. He had disproportionate short stature (-3 SD), blepharophimosis, abundant eyebrows and curly eyelashes, upslanted palbebral fissures, broad and depressed nasal bridge, short neck, short thorax with pectus excavatum, abundant axillary, pubic, and body hair, rhizomesoacromelic shortness in all extremities, short hands and feet, and a coarse voice. Radiographs revealed cuboid-shaped vertebral bodies and lack of lumbar lordosis, short and broad tubular bones, brachymetacarpalia and brachymetatarsia, and brachydactyly. His 40-year-mother, described as moderately affected, had short stature (-3.5 SD) and similar facial characteristics. Garcia-Cruz et al. (2007) proposed that SED-BDS is inherited in an autosomal dominant manner since both sexes were affected and parental consanguinity was absent. However, X-linked dominant inheritance could not be excluded.

History

Historically, the first described patient with this skeletal dysplasia is Herve Villechaize, the actor well known as Tatoo in the U.S. television series 'Fantasy Island' (Lachman, 2007).