Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type
| Autor: | Sarah F. Smithson, David Grier, Christine Hall |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Epiphyseal dysplasia business.industry Calcinosis General Medicine Osteochondrodysplasias medicine.disease Narrow chest Short stature Pathology and Forensic Medicine Radiography Short limbs Dysplasia Pediatrics Perinatology and Child Health medicine Humans Radiology Anatomy medicine.symptom Child business Genetics (clinical) Calcification |
| Zdroj: | Clinical Dysmorphology. 18:31-35 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e3283189762 |
| Popis: | We describe the clinical and radiological features of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (OMIM 271665) in a 7-year-old boy from Pakistan. The key clinical features of this condition include disproportionate short stature with short limbs, a narrow chest with pectus excavatum, brachydactyly in the hands and feet, a characteristic craniofacial appearance and developmental delay in some but not all patients. The radiological findings are distinctive and comprise short long bones throughout the skeleton with striking epiphyses that are stippled, flattened and fragmented and flared, irregular metaphyses. Platyspondyly in the spine with wide intervertebral spaces is observed and some vertebral bodies are pear-shaped with central humps, anterior protrusions and posterior scalloping. In the patient, we describe that the pelvic sacroiliac notch was narrow, several acetabular spurs were seen and there were several ossification defects in the pelvic bones. This form of spondylo-meta-epiphyseal dysplasia has been reported in 14 patients previously. The occurrence of affected siblings with normal parents in three families and consanguinity on three occasions indicates autosomal recessive inheritance. |
| Databáze: | OpenAIRE |
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