Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation

Nishimura et al. (1998) reported the cases of 4 Japanese sibs (3 brothers and a sister) with an apparently 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. Radiologic anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibias, 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, autosomal recessive inheritance was considered likely by the authors. The cleft palate was associated with micrognathia. The skeletal changes gave rise to mild micromelia in infancy and short trunk with thoracolumbar kyphoscoliosis in late childhood.