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MELNICK-NEEDLES SYNDROME - 4 NEW CASES
被引:9
|作者:
EGGLI, K
[1
]
GIUDICI, M
[1
]
RAMER, J
[1
]
EASTERBROOK, J
[1
]
MADEWELL, J
[1
]
机构:
[1] PENN STATE UNIV,MILTON S HERSHEY MED CTR,DEPT PEDIAT,HERSHEY,PA 17033
关键词:
D O I:
10.1007/BF02019852
中图分类号:
R72 [儿科学];
学科分类号:
100202 ;
摘要:
Melnick-Needles syndrome is a rare connective tissue disorder producing somatic abnormalities with characteristic radiographic features. There are less than 35 documented cases reported to date. We present four new cases of Melnick-Needles Syndrome, one of which is the first reported Asian-ancestry patient. Two girls are daughters of one of Needle's original patients from family #2. Two others, from unrelated non-affected families, probably represent new mutations. All have characteristic radiographic features of the disorder.
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页码:257 / 261
页数:5
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