与身材矮小和特殊面部特征相关的软骨中异常钙沉积：一例报告。 - Suppr

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Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: a case report.

作者信息

Say B, Balci S, Pirnar T, Israel R, Atasu M

出版信息

Pediatr Radiol. 1973 Jul;1(2):127-9. doi: 10.1007/BF00973228.

DOI:10.1007/BF00973228

PMID:4780873

Abstract

摘要

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Can Med Assoc J. 1965 Mar 13;92(11):574-5.

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".家族性神经内脏脂质沉积症。对先前报告为“胡尔勒变异型”、“假性胡尔勒”和“伴有内脏受累的泰-萨克斯病”的一种综合征的8例病例分析。

Am J Dis Child. 1964 Nov;108:503-22.

Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis.

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Thirteen cases of alkaptonuria from one family tree with special reference to osteo-arthrosis alkaptonurica.来自一个家族谱系的13例黑尿症病例，特别提及尿黑酸尿性骨关节炎。

J Bone Joint Surg Am. 1960 Jul;42-A:817-31.

The roentgenographic features of the oto-palato-digital (OPD) syndrome.

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J Pediatr. 1968 Jan;72(1):63-9. doi: 10.1016/s0022-3476(68)80401-9.

Heterogeneity of Chondrodysplasia punctata.点状软骨发育不良的异质性。

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The cerebro-hepato-renal syndrome (CHRS) (Zellweger's syndrome).脑肝肾综合征（CHRS）（泽尔韦格综合征）。

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