Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: Report of four sibs

Abstract

We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became substantial in early childhood. Radiological anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibiae, strikingly delayed patellar ossification, mild metaphyseal splaying, hypoplastic ilia with iliac flare, and platyspondyly with ovoid-shaped or posteriorly humped vertebral bodies. The nonconsanguineous parents were mildly mentally retarded, and sibs of both gender were equally affected; thus, inheritance was likely autosomal recessive.

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation

“…There are many single or familial cases reported under the general title of mental retardation and skeletal dysplasias [1,5,6,13]. The phenotype and clinical course of those patients are dierent from that of our patients.…”

Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract

“…However, most of the case reports have found association of myopia, cataract and retinal detachment with SED congenita 10. One case report has also shown association of corneal opacity with SED tarda 11.…”