Rapid Review Test

Gout, intellectual disability, self-mutilating behavior in a boy

• Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
• Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
• Primary ciliary dyskinesia or Kartagener syndrome (dynein arm defect affecting cilia)
• Cri-du-chat (cry of the cat) syndrome

Situs inversus, chronic ear infections, sinusitis, bronchiectasis, infertility

• Primary ciliary dyskinesia or Kartagener syndrome (dynein arm defect affecting cilia)
• Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
• McCune-Albright syndrome (Gs-protein activating mutation)
• Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)

Blue sclera, multiple fractures, dental problems, conductive hearing loss

• Osteogenesis imperfecta (type I collagen defect)
• Cri-du-chat (cry of the cat) syndrome
• Marfan syndrome (fibrillin defect)
• Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)

Elastic skin, hypermobility of joints,  bleeding tendency

• Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
• Marfan syndrome (fibrillin defect)
• Wet beriberi (thiamine [vitamin B1] deficiency)
• Wernicke encephalopathy (add confabulation/memory loss for Korsakoff syndrome)

Arachnodactyly, lens dislocation (upward and temporal), aortic dissection, hyperflexible joints

• Marfan syndrome (fibrillin defect)
• Wernicke encephalopathy (add confabulation/memory loss for Korsakoff syndrome)
• Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)
• Becker muscular dystrophy (X-linked non-frameshift deletions in dystrophin; less severe than Duchenne)

Arachnodactyly, pectus deformity, lens dislocation (downward)

• Homocystinuria (autosomal recessive)
• Duchenne muscular dystrophy (Gowers sign)
• Wernicke encephalopathy (add confabulation/memory loss for Korsakoff syndrome)
• Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)

Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

• McCune-Albright syndrome (Gs-protein activating mutation)
• Down syndrome
• Edwards syndrome (trisomy 18)
• Wet beriberi (thiamine [vitamin B1] deficiency)

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility

• Cystic fibrosis (CFTR gene defect, chromosome 7, ∆F508)
• Homocystinuria (autosomal recessive)
• Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)
• Pellagra (niacin [vitamin B3] deficiency)

Calf pseudohypertrophy

• Muscular dystrophy (most commonly Duchenne, due to X-linked recessive frameshift mutation of dystrophin gene)
• Ehlers-Danlos syndrome (type V collagen defect, type III collagen defect seen in vascular subtype of ED)
• Osteogenesis imperfecta (type I collagen defect)
• Primary ciliary dyskinesia or Kartagener syndrome (dynein arm defect affecting cilia)

Child uses arms to stand up from squat

• Duchenne muscular dystrophy (Gowers sign)
• Pellagra (niacin [vitamin B3] deficiency)
• Cri-du-chat (cry of the cat) syndrome
• Marfan syndrome (fibrillin defect)