| A Case of Short Rib-Polydactyly Syndrome, Type 3. |
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Yong Woo Park1, Jun Ho Kim1, Yo Han Kim1, Eun Ryong Kim1, Soon Jai Lee1, Young Jin Kim2 |
1Department of Pediatrics, Sung Ae Hospital, Seoul, Korea
2Department of pathology, Sung Ae Hospital, Seoul, Korea |
| Short Rib-Polydactyly 증후군 (type 3) 1 례 |
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박용우1, 김준호1, 김요한1, 김은령1, 이순재1, 김영진2 |
1성애병원 소아과
2성애병원 임상병리과 |
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| Abstract |
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A case of the Naumoff type (type 3) of short rib-polydactyly syndrome is reported.
The skeletal changes included bulging forehead, flat occiput, short cranial base, extremely short
horizontal ribs, abnormal vertebrae, and post-axial polydactyly.
Microscopically, cartilage showed markedly stunted and disorganized endochondrial ossification.
Extraskeletal manifestation were cleft palate, pulmonary hypoplasia, hydropelvis and hydroureter
with narrowing of ureterovesical junction.
Differentiation from other type of short rib-polydactyly syndrome is discussed.
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| Key Words:
Short Rib-Polydactyly syndrome, Type 3.
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