241 Achondroplasia Instruction Look at this patient. Salient features History • Family history (autosomal dominant inheritance; however, 80% are new mutations) • Paternal age (increases in frequency with increasing age of father at child’s birth). Examination • Dwarfism • Bulging forehead • Depression of the root of the nose • Midface hypoplasia • Shortened proximal extremities with hands have a ‘trident’ shape • Trunk of normal size • Exaggerated lumbar lordosis. Diagnosis This patient with short stature and normal trunk size has achondroplasia (lesion), which is caused by mutation of the gene for the fibroblast growth factor receptor (aetiology). Questions Is the lifespan reduced in these subjects? No, they have a normal lifespan, although this has been disputed (Lancet 1998;352:1950). Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window)Like this:Like Loading... Related Related posts: Permanent cardiac pacemaker/implantable cardioverter-defibrillator Cauda equina syndrome Dermatomyositis Dystrophia myotonica Stay updated, free articles. Join our Telegram channel Join Tags: 250 Cases in Clinical Medicine Dec 4, 2016 | Posted by admin in GENERAL & FAMILY MEDICINE | Comments Off on Achondroplasia Full access? Get Clinical Tree
241 Achondroplasia Instruction Look at this patient. Salient features History • Family history (autosomal dominant inheritance; however, 80% are new mutations) • Paternal age (increases in frequency with increasing age of father at child’s birth). Examination • Dwarfism • Bulging forehead • Depression of the root of the nose • Midface hypoplasia • Shortened proximal extremities with hands have a ‘trident’ shape • Trunk of normal size • Exaggerated lumbar lordosis. Diagnosis This patient with short stature and normal trunk size has achondroplasia (lesion), which is caused by mutation of the gene for the fibroblast growth factor receptor (aetiology). Questions Is the lifespan reduced in these subjects? No, they have a normal lifespan, although this has been disputed (Lancet 1998;352:1950). Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window)Like this:Like Loading... Related Related posts: Permanent cardiac pacemaker/implantable cardioverter-defibrillator Cauda equina syndrome Dermatomyositis Dystrophia myotonica Stay updated, free articles. Join our Telegram channel Join Tags: 250 Cases in Clinical Medicine Dec 4, 2016 | Posted by admin in GENERAL & FAMILY MEDICINE | Comments Off on Achondroplasia Full access? Get Clinical Tree
