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Objectives To analyze a rare autosomal recessive disease, aggrecan type spondylometaphyseal dysplasia (SEMD), which was caused by ACAN gene mutations. Methods A 7 years old girl was diagnosed with short stature after excluding growth hormone deficiency, idiopathic short stature, and hypothyroidism. Combining family history and clinical features, SEMD were suspected and genetic tests were performed. Results The patient was found with homozygous mutations of c.512C > T inACAN gene, and was diagnosed with aggrecan type SEMD. Her parents were found to be heterozygous mutation carrier. Conclusions In patients with high suspection of a special type of short stature, early genetic tests should be carried out for a clear diagnosis.
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Objective To investigate the clinical characteristics and diagnostics of Kozlowski type spondylometaphyseal dysplasia (SMDK). Methods The clinical features, laboratory tests and genetic testing of one SMDK case were analyzed. Re-sults A eight-year-old male patient had more than 6 years course of disease. The clinical manifestations were stubby limbs, ifn-gers and toes, varus deformity, knee valgus deformity, scoliosis and lordosis and severe metaphyseal changes. The heterozygous mutations were detected in TRPV4 and NXX3-2 genes. Conclusions Typical clinical features combined with genetic diagnosis facilitate early detection and accurate diagnosis of SMDK.
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Developmental coxa vara is a rare disease and the symptoms do not appear at birth, but rather, they appear at the age of walking. Clinically, the symptoms include a waddling gait, limb length discrepancy and frequent weariness. Developmental coxa vara is sometimes associated with skeletal dysplasia. Especially, it is associated with spondylometaphyseal dysplsia and the vertebral bodies and long bones are affected. The authors report here on diagnosing and treating this rare disease and we review the relevant literatures.
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Coxa Vara , Extremidades , Marcha , Cadera , Osteocondrodisplasias , Parto , Enfermedades Raras , CaminataRESUMEN
Spondylometaphyseal dysplasia (SMD) is an extremely rare, which affects the spine and metaphy-ses of the tubular bones on terms of enchondrogenesis. Children who had Kozlowski dwarfism, type of SMD are not recognized until they reach school age since they have normal clinical feature, weight and size in early childhood. Authors experienced a typical case of Kozlowski type of SMD in a 10 years old male who had i) generalized platyspondyly with anterior tapering of vertebrae ii) generalized metaphyseal dysplasia iii) minimal changes in the carpal and tarsal bones. This case is to be reported with review of references.
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Niño , Humanos , Masculino , Enanismo , Columna Vertebral , Huesos TarsianosRESUMEN
Spondylometaphyseal dysplasia(SMD) is very rare disease characterized with platyspondyly and metaphyseal changes in the long bone. Shrot status and later abnormal gait associated with coxa vara are common clinical feature. A 6 years 4 months old boy progressive bilateral coax vara were transferred with abduction limitation of the hip. With the skeletal survey, multiple dysplastic changes of the metaphysic of the long bone including knee, shoulder, ankle, and flatterning of the body of lower thoracic and upper lumbar spine(T11,12,L1) were noted. A corrective valgus osteotomy on the both hip were followed with improvement of the range of motion.