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A 3-year-old boy presents with a leg deformity and multiple skin lesions. Lisch nodules were found on ophthalmologic exam. A clinical photograph and radiographs are shown in Figure A and B. What is the inheritance pattern and mutation that encodes for this condition.
autosomal dominant; mutation in NF1 gene that codes for neurofibromin protein
autosomal recessive; mutation in NF1 gene that codes for neurofibromin protein
autosomal dominant; mutation of FGFR3 (fibroblast growth factor recepter)
autosomal recessive; mutation of FGFR3 (fibroblast growth factor recepter)
autosomal dominant; mutation of GS alpha protein
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A 60-year-old man presents with the hand condition shown in Figure A. The mass is resected with gross pathology and histopathology representations displayed in Figures B and C, respectively. What is the altered genetic etiology of this condition?
All of the following are associated with neurofibromatosis EXCEPT:
Smooth bordered café-au-lait spots
Posterior-medial bowing of the tibia
Short, sharp dystrophic scoliosis
Autosomal dominant transmission from mutated neurofibromin gene
A 3-year-old boy presents with a forearm deformity. Radiographs are shown in Figure A. Ophthalmologic exam shows the lesion seen in Figure B. These finding are most consistent with which of the following conditions?
Neurofibromatosis Type 1
The diagnostic criteria for neurofibromatosis type I includes all of the following EXCEPT:
2 or more neurofibromas
6 or more cafe-au-lait macules
2 or more Lisch nodules
freckling on the plantar surface of the feet
A 3-year-old boy presents with the skin lesion seen in Figure A and a leg deformity. Radiographs are shown in Figure B. What is the most appropriate first step in treatment?
bracing in total contact orthosis
intramedullary nailing with bone grafting
free fibular graft from contralateral side
external fixation using Illizarov techniques
All of the following are clinical features of neurofibromatosis type I (NF-I) EXCEPT?
freckling in the axillae
cafe' au lait spots
axillary freckling in neurofibramatosisplexiform neurofibromalisch nodules...