ABGC 100 disorders Q&A Latest Update

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ABGC 100 disorders | Q&A Latest Update 2025/2026 | 100% PASS A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? - Answer Achondroplasia A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. What condition to suspect and inheritance? - Answer -Alagille syndrome, AD A 30 year old male comes to see you complaining of lung issues: SOB, fatiugure and recurrent infections. He was tested negative for all Cystic fibrosis mutations. He mentions having a few episodes of jaundice in his 20s. WHen you go to shake hands, you notice patches on his skin. Condition and inheritance? - Answer -Alpha 1 antitrypsin, autosomal codominant and AR A newborn is born with ambitious genitalia. You suspect AIS but notice other features like craniosynostosis and bowed legs. Additionally, the baby has Choanal atresia. What disorder can you suspect? - Answer Severe antler-bixley syndrome You see a 2 year old female baby with partial vision loss and episodes ofhematouria. She gets genetic testing and is found to have a mutation in the COL1A5 gene for Alport syndrome. What symptom tends to