Radiological evolution in IMAGe association: a case report.

IMAGe association is a recently recognized multi-system disorder of unknown etiology. IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies (OMIM 300290). Suspicion for the disorder is readily raised by the distinctive clinical and endocrinological constellation, and radiological identification of metaphyseal dysplasia is crucial for the diagnosis. However, knowledge of the onset, evolution, severity, and variation of the metaphyseal dysplasia is currently limited. We illustrate the radiological evolution of an affected girl from her premature birth to early childhood. Her initial skeletal changes included thin ribs, delayed ossification of the juxtatruncal bones, and delayed epiphyseal ossification. The former two became less conspicuous during infancy. Metaphyseal dysplasia was not discerned at birth. However, mild metaphyseal cupping, sclerosis and longitudinal striations became manifest in late infancy, and then progressed with age. It is thought that the skeletal alterations in IMAGe association encompass retarded endochondral ossification normalized later on and mild metaphyseal dysplasia of postnatal onset.

Hypophosphatemic rickets in opsismodysplasia.

BACKGROUND: Opsismodysplasia is a rare spondylo(epi)chondrodysplasia characteristized by delayed skeletal maturation and a constellation of dysplastic features. Although metaphyseal irregularities/cupping have been noted, neither renal phosphate wasting nor rickets have previously been reported. OBJECTIVE: To evaluate hypophosphatemia and rickets in opsismodysplasia. PATIENTS: Two girls with opsismodysplasia presenting with hypophoshpatemia by 3 years of age. METHODS: Routine biochemistries to assess hypophosphatemia and renal phosphate wasting; radiographs (rachitic changes) and DEXA scan (BMD); FGF23 levels, PHEX and FGF23 gene analyses performed (Patient 1). RESULTS: Both children had hypophosphatemia, decreased TRP, and rickets. Oral phosphorus and calcitriol improved metaphyseal mineralization, yet serum phosphate levels remained relatively low and renal phosphate wasting persisted. PHEX and FGF23 gene analyses were negative, whereas serum FGF23 levels were markedly elevated in Patient 1. CONCLUSION: We now demonstrate an association between opsismodysplasia, hypophosphatemic rickets, and FGF23 elevation. Screening phosphorus levels may thus uncover a potentially treatable component of this disease.

A female case of Sedaghatian type spondylometaphyseal dysplasia.

Sedaghatian type spondylometaphyseal dysplasia is a rare osteochondrodysplasia first described in 1980. The original report describes an Iranian infant with mild rhizomelic limb shortening, severe metaphyseal cupping and irregularity and platyspondyly who died shortly after birth. The baby was born to a consanguineous couple who had reportedly had two similarly affected infants, one male and one female. No documented radiology is available on the female infant. Since this publication, 10 further case reports of male infants with this condition have appeared in the literature all of whom have died shortly after birth. We report a fully documented female case of Sedaghatian type spondylometaphyseal dysplasia providing further evidence to support an autosomal recessive mechanism of inheritance.

Axial spondylometaphyseal dysplasia.

UNLABELLED: We present a previously undescribed 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. Two of the three cases were siblings. Retinitis pigmentosa and optic atrophy are associated findings. CONCLUSION: We describe a new type of spondylometaphyseal dysplasia (SMD) and propose the name axial SMD.

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

A child with a mild form of pseudoachondroplasia was heterozygous for a deletion of 12 nucleotides from exon 10 of the cartilage oligomeric matrix protein (COMP) gene. It resulted in the deletion of valine 513 to lysine 516 from the eighth calmodulin-like repeat of COMP monomers. A child with the Fairbank's type of multiple epiphyseal dysplasia was also heterozygous for a COMP mutation. It substituted cysteine 371 by serine in the fourth calmodulin-like repeat. Both mutations were likely to alter the conformation and calcium binding of the mutant COMP protein chains. These findings support the proposal that deletions and insertions within the calmodulin-like domain produce pseudoachondroplasia, while amino acid substitutions with this domain may produce either pseudoachondroplasia or multiple epiphyseal dysplasia.

Spondyloepiphyseal dysplasia tarda.

OBJECTIVE: To present a case of spondyloepiphyseal dysplasia (SED) tarda in a 14-yr-old boy. CLINICAL FEATURES: The patient suffered from chronic bilateral hip pain and range of movement was decreased. Radiographic examination showed findings consistent with skeletal dysplasia tarda. INTERVENTION AND OUTCOME: The patient was given specific stretching exercises and encouragement to stay active. Physiotherapy was provided to strengthen the hip adductor muscles. CONCLUSION: The presence of short stature, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a skeletal dysplasia, specifically spondyloepiphyseal dysplasia.

[Striated osteopathy]. / L'ostéopathie striée.

Striated osteopathy, a roentgenological entity characterized by longitudinal striations, can occur concomitantly with a number of disorders which should be routinely looked for. There are three types of striated osteopathy. The pure form without severe bone disorders is the form originally reported by Voorhoeve. In the second form, there is a concomitant fibrous dysplasia, such as Jaffe-Lichtenstein-Uehlinger disease, Ollier enchondromatosis, sponastrism dysplasia, or osteopetrosis. This group also includes bone dysplasias with sclerosis such as melorheostosis, osteopecilia, and sclerosis of the base of the skull which is sometimes seen in patients with striated osteopathy. In the third form, striated osteopathy occurs concomitantly with a skin disease such as patchy dermal hypoplasia or hyperpigmented skin lesions.

Radiographic bone surveys after isotretinoin therapy for cystic acne.

Seven patients underwent retrospective radiographic examination 10 to 16 months after high dose isotretinoin therapy for severe cystic acne. One patient, who received the highest isotretinoin dose (approximately twice the average dose taken by the remaining patients), had multiple small hyperostoses of the thoracic spine and tarsi navicular. These findings were identical to the skeletal changes known to occur during retinoid administration. Prospective studies are needed to ascertain the risk of developing hyperostoses during isotretinoin therapy for acne at the lower doses currently employed. In this preliminary study, clinically significant hyperostoses were not a late sequela of high dose isotretinoin treatment for acne.