Total: 1 |
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PMID (PMCID) | ||
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22888019 |
FEMALE | Infant, Newborn |
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. | ||
Bober MB, Taylor M, Heinle R, Mackenzie W. Am J Med Genet A. 2012;158A(9):2336-41. |
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In addition to having typical problems associated with both achondroplasia and hypochondroplasia, our patient had several atypical findings including: abnormal lobulation of the lungs with respiratory insufficiency, C1 stenosis, and hypoglycemia following a Nissen fundoplication. |