Term
| Apert syndrome main characteristics |
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Definition
| craniosynostosis and syndactyly, also choanal atresia (doesn't want to be apart (apert)) |
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Term
| Holt Oram Syndrome main characteristics |
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Definition
| ASD and upper limb defects (esp three-jointed thumbs) (Heart Arm syndrome) |
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Term
| McCune Albright main features |
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Definition
| cafe au lait s[ots, fibrous dysplasia, precocious puberty |
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Term
| inheritance pattern for g6pd deficiency |
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Definition
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Term
| Aicardi syndrome main features |
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Definition
| absence of corpus callosum, seizures, macrocephaly, ocular abnormalities |
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Term
| what is the best marker for predicting fetal lung maturity |
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Definition
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|
Term
| in a mother with diabetes what is the best marker for predicting fetal lung maturity |
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Definition
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Term
| ebstein's anomaly can result from what exposure during pregnancy? |
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Definition
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Term
| features of warfarin embryopathy |
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Definition
| depressed nasal bridge, short nose, hypoplastic distal phalanges, stippled epiphyses |
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Term
| key feature of Rubinstein-Taybi |
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Definition
| broad thumb (they also have cryptorchidism) |
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Term
| Main characteristics of Prune Belly Syndrome |
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Definition
| no abdominal muscle leads to "prune" belly, bladder outlet obstruction, oligohydramnios, pulmonary hypoplasia, cryptorchidism |
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Term
| facial features of Hallerman Streiff syndrome |
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Definition
| pointed nose, bird like face, small eyes |
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Term
| as soon as you suspect the diagnosis of Sturge Weber syndrome who should you refer to |
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Definition
| ophthalomology to rule out glaucoma and other associated urgent eye problems |
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