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Figures A&B are the radiographs of a 5-year-old male who presents for evaluation of right lower leg pain. On examination, he is noted to have freckling in the axilla and optic examination is seen in Figure C. What is the pattern of inheritance of this most likely disease?
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A child is found to have axillary and inguinal freckling, scoliosis, and hamartomas within his iris. Which of the following pairs the inheritance pattern of the condition with the leg abnormality found in the condition?
Autosomal dominant; Figure B
Autosomal recessive; Figure B
X-linked recessive; Figure A
Autosomal dominant; Figure C
Autosomal recessive; Figure A
A 6-year-old boy with neurofibromatosis type 1 returns for follow-up of the condition shown in Figures A and B. The patient has attempted bracing with a knee-ankle-foot orthosis and long leg casting but has not had any radiographic improvement. What is the best next step in management?
Resection of pseudoarthrosis , bone grafting, and intramedullary nailing
A 4-year-old refugee patient presents with multiple orthopedic complaints. To date, the patient has not seen any specialists or received any treatment with regards to their symptoms. Radiographs are shown in Figures A-C. Based on the diagnosis, what other manifestations may also be present?
Radial head subluxation
Excessive glenoid retroversion
Absence of the anterior cruciate ligament
Developmental dysplasia of the hip
A 4-year-old boy is referred to your office for evaluation of a progressive lower extremity deformity. AP radiographs are shown in Figure A. All of the following may also be found on physical examination EXCEPT:
A patient presents with scoliosis associated with neurofibromatosis. In addition to intracanal neurofibromas, which of the following is commonly associated with this condition, and should be assessed by MRI of the spinal axis preoperatively?
Spina bifida occulta
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 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
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?
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
What is the most important sign of impending modulation with rapid progression of a spinal deformity in neurofibromatosis?
Apical curve rotation
Anterior vertebral body erosions
Cervical spine involvement
Penciling of three or more ribs
Curve magnitude of more than 50 degrees
A 10-year-old girl who is Risser stage 0 has back deformity associated with neurofibromatosis type 1 (NF1). She has no back pain. Examination shows multiple cafe-au-lait nevi with normal lower extremity neurologic function and reflexes. Standing radiographs of the spine show a short 50-degree right thoracic scoliosis with a kyphotic deformity of 55 degrees (apex T8). A 10-degree progression in scoliosis has occurred during the past 1 year. There is no cervical deformity. MRI shows mild dural ectasia, primarily in the upper lumbar region. Management should consist of
observation with repeat radiographs in 6 months.
a thoracolumbosacral orthosis (TLSO).
in situ posterior spinal fusion without instrumentation, followed by full-time TLSO bracing.
anterior spinal convex hemiepiphysiodesis.
combined anterior and posterior spinal arthrodesis with instrumentation.
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
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 male is evaluated in your office. On examination he is found to have several pigmented cutaneous lesions and hamartomas of the iris. His right leg was previously treated with both a knee-ankle-foot orthotic and long-leg casting for approximately 9 months. His most recent radiographs are seen in Figures A and B. What is the next best treatment?
Resection of pseudoarthrosis with bone grafting and surgical fixation
Below knee amputation
All of the following are clinical features of neurofibromatosis type I (NF-I) EXCEPT?
freckling in the axillae
cafe' au lait spots