ABGC 100 disorders | Q&A Latest Update 2024/2025 | 100% PASS

ABGC 100 disorders | Q&A Latest Update 2024/2025 | 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