Ehara et al. (1997) presented a previously undescribed, probably autosomal recessive skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac ... Ehara et al. (1997) presented a previously undescribed, probably autosomal recessive skeletal dysplasia characterized by mild platyspondyly, small thorax with cupping of the anterior ends of the ribs, irregular proximal femoral metaphyses, and lacy appearance of the iliac wings. The 3 patients were a Korean brother and sister and an unrelated Japanese child. Retinitis pigmentosa and optic atrophy were associated findings. The lacy appearance of the iliac crest is a feature also of Dyggve-Melchior-Claussen syndrome (223800), but Ehara et al. (1997) pointed out that the severe epiphyseal dysplasia of the proximal femurs and marked platyspondyly with particular double-hump appearance of the vertebral bodies seen in DMC syndrome were not present in their patients. Other rare forms of SMD could be excluded, they thought. The parents in neither case were consanguineous. Isidor et al. (2010) reported 2 unrelated boys with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. The first boy, born of consanguineous parents, was evaluated at 7.5 years of age for short stature and found to have frontal bossing, a narrow bell-shaped thorax with prominent sternum, and rhizomelic shortening of the limbs. Radiologic examination showed moderate platyspondyly with ovoid vertebral bodies and enlarged short ribs, irregular iliac crest, and very abnormal femoral metaphyses with short and enlarged femoral neck. Bone age was moderately delayed. By 14.8 years of age, he had developed photophobia; ophthalmoscopy showed bilateral pale papillae, normal maculae, and diffuse atrophy of the pigmentary epithelium. Goldman visual fields were normal, whereas electroretinography (ERG) showed a 50% decrease in scotopic white and red waves. Cerebral MRI showed slight bilateral optic nerve atrophy. The other boy, born of healthy nonconsanguineous parents, was evaluated at 6.5 years of age for growth failure and noted to have delayed bone age, telecanthus and hypertelorism with antimongoloid palpebral fissures, slight eversion of the inferior eyelids, and short nose with anteverted nares. The thorax was very narrow with a bell-shaped thoracic cage, and he had rhizomelic shortening of the limbs; radiography showed spondylometaphyseal dysplasia, predominating in the pelvis and femoral neck, with lacy iliac wings. Ophthalmologic examination revealed bilateral symmetric cone-rod dystrophy without optic atrophy, and ERG showed a very severe defect of cone function and a small defect of the rods. Optical coherence tomography (OCT) was normal. At 15 years of age, the visual fields remained stable, but his facial features were unusual, with proptosis, hypertelorism, and frontal bossing. Radiography showed platyspondyly with 'codfish' appearance in the thoracic region, but disappearance of the irregularities of the iliac crest. Isidor et al. (2010) proposed that these 2 patients and the 3 patients described by Ehara et al. (1997) shared a distinctive phenotype, with major features consisting of postnatal growth deficiency, mild short stature, rhizomelic shortening of the limbs without bowing of the long bones of the legs, axial metaphyseal abnormalities with progressive mild platyspondyly, progressive femoral metaphyseal changes, decreased anteroposterior diameter of the thorax with markedly flared anterior ends of the ribs, normal tubular bones, and early onset and progressive visual impairment, with cone-rod dystrophy and/or optic atrophy.