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15 Cards in this Set
- Front
- Back
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Most common congenital anomaly of the face? Most common association with? |
Cleft lip / palate. Most common cardiac anomaly: ASD. |
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Most common neck mass? |
Cystic hygroma |
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Second most common skeletal dysplasia? Which type is more severe? |
Achondrogenesis (lethal): Type 1 more severe |
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Hypomineralizatjon of bones. Curved and bowed long bones. Short bones.small thorax, poorly ossified cranium. Alkaline phosphatase deficiency. Finding? |
Congenital Hypophosphatasia |
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Achondroplasia: one is autosomal dominant or sporadic mutation. Inherited from 1 parent. Non lethal, normal life span= Lethal, inherited from both parents, infants die shortly due to pulm hypoplasia shortly after birth= |
Heterozygous Achondroplasia. Homozygous Achondroplasia |
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Skeletal dysplasia; Normal mineralization, no fractures, yes macrocrania, no short trunk. |
Thantotrophic dysplasia |
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Skeletal dysplasia; Normal mineralization, no fractures, yes macrocrania, no short trunk. |
Thantotrophic dysplasia |
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Skeletal dysplasia; Patchy demineralization, occasional fx, yes macrocrania, yes short trunk. |
Achondrogenesis |
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Skeletal dysplasia; Normal mineralization, no fractures, yes macrocrania, no short trunk. |
Thantotrophic dysplasia |
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Skeletal dysplasia; Patchy demineralization, occasional fx, yes macrocrania, yes short trunk. |
Achondrogenesis |
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Skeletal dysplasia; Generalized demineralization. Innumerable fx, no macrocrania, yes short trunk. |
OI type 2 |
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Skeletal dysplasia; Normal mineralization, no fractures, yes macrocrania, no short trunk. |
Thantotrophic dysplasia |
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Skeletal dysplasia; Patchy demineralization, occasional fx, yes macrocrania, yes short trunk. |
Achondrogenesis |
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Skeletal dysplasia; Generalized demineralization. Innumerable fx, no macrocrania, yes short trunk. |
OI type 2 |
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Patchy or generalized demineralization, no fx, no macrocrania, no short trunk. |
Hypophosphatasia |
