Percussion-induced muscle mounding Failure to Cardiac Hypertrophic Almost all Muscle weakness & Umbilical IR pyloric stenosis fat lost hypertrophy prominence Mild Esophageal CGL 4 Normal Hypertrichosis Spinal rigidity Transient AR None Risk of N N dysmotility Not reported ↑glucose (PTRF) mechanical Acromegaloid ↑Lordosis sudden ↑TG Marrow fat Osteoporosis cardiac ↓Leptin unknown Atlanto-axial instability Recurrent ↑ALT/AST Arthritis infections Contractures AN Acute CGL IR/DM Almost all Phlebomegaly pancreatitis AR None Muscle hypertrophy N N Irregular menses ↑TG fat lost Eruptive parathyroidism ↓Leptin xanthomata Acquired Generalized Lipodystrophy Onset Skin Muscle Nervous GI GU Other ↓Fat ↑Fat Bone Endocrine Mineral Spleen Almost all fat AN Ischemic 3 variants: Panniculitis After birth, lost IR/ DM Hirsutism Muscular Autoimmune (complement n/a n/a often before None TG N N PCOS ↓Mechanical ↑ appearance abnormalities) adolescence Normal Leptin ↓ ± HTN Idiopathic marrow
CGL 4 (PTRF) AR Almost all fat lost Normal mechanical Marrow fat unknown None Hypertrichosis Acromegaloid Percussion-induced muscle mounding Muscle weakness & hypertrophy Spinal rigidity ↑Lordosis Osteoporosis Atlanto-axial instability Arthritis Contractures Cardiac Risk of sudden cardiac IR Mild ↑glucose ↑TG ↓Leptin N N Hypertrophic pyloric stenosis Esophageal dysmotility ↑ALT/AST Not reported Failure to Umbilical prominence Transient Recurrent infections CGL AR Almost all fat lost None AN Phlebomegaly Eruptive xanthomata Muscle hypertrophy IR/DM ↑TG ↓Leptin N N Acute pancreatitis Irregular menses parathyroidism Acquired Generalized Lipodystrophy Onset ↓Fat ↑Fat Skin Muscle Bone Mineral Nervous GI Spleen GU Endocrine Other n/a n/a After birth, often before adolescence Almost all fat lost ↓Mechanical Normal marrow None AN Hirsutism Muscular appearance Ischemic ± HTN IR/ DM ↑ TG ↓ Leptin N N PCOS 3 variants: Panniculitis Autoimmune (complement abnormalities) Idiopathic
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