Klinische FragestellungSkoliose, früh beginnend; Differentialdiagnose

NGS +

• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Neurofibromatosis-Noonan syndrome (NF1)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Watson syndrome (NF1)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Central core disease (RYR1)
• Cowden syndrome 5 (PIK3CA)
• Dystonia 6, torsion (THAP1)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• MASS syndrome (FBN1)
• Marfan syndrome (FBN1)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Osteogenesis imperfecta, type XXI (KADELR2)
• Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
• Spondylocostal dysostosis 5 (TBX6)