Haga N, Nakamura K, Taniguchi K, Nakamura S
Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka-city, Japan.
Clin Dysmorphol. 1998 Jan;7(1):65-8.
We report a girl with multiple enchondromatosis, unequal leg length, short stature, congenital scoliosis, lymphangioma, and cutaneous hemangiomata. The skeletal findings were consistent with the clinical and radiological features of dysspondyloenchondromatosis except that short stature was not apparent in the neonatal period. Dysspondyloenchondromatosis is a rare disorder, one of the several types of multiple enchondromatosis with spinal abnormalities. In previous reports of this condition the association of vascular lesions usually found in Maffucci syndrome has not been described.
我们报告了一名患有多发性内生软骨瘤病、双下肢不等长、身材矮小、先天性脊柱侧凸、淋巴管瘤和皮肤血管瘤的女孩。骨骼检查结果与脊柱发育不良性内生软骨瘤病的临床和放射学特征相符，只是身材矮小在新生儿期并不明显。脊柱发育不良性内生软骨瘤病是一种罕见的疾病，是伴有脊柱异常的多种内生软骨瘤病类型之一。在以往关于这种疾病的报道中，尚未描述通常在马富西综合征中发现的血管病变的关联。
