Total: 1 |
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PMID (PMCID) | ||
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9426272 |
MIXED_SAMPLE | Infant, Newborn |
A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents. | ||
Nishimura G, Nakayama M, Fuke Y, Suehara N. Pediatr Radiol. 1998;28(1):43-7. |
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The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures. |