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Dyggve-Melchior-Clausen Syndrome
被引:5
|作者:
Gupta, V.
[1
]
Kohli, A.
[1
]
Dewan, V.
[1
]
机构:
[1] Dr Ram Manohar Lohia Hosp, Dept Pediat & Neonatol, New Delhi, India
关键词:
Dyggve-Melchior-Clausen syndrome;
Spondylo-epi-metaphyseal dysplasia;
D O I:
10.1007/s13312-010-0151-x
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder characterized by progressive spondylo epi-metaphyseal dysplasia associated with mental retardation The clinical and radiological findings resembles Morquio disease at the onset of condition which may hinder its diagnosis Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported
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页码:973 / 975
页数:3
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