Familial Occurrence of The Noonan Syndrome
スポンサーリンク
概要
- 論文の詳細を見る
The syndrome, usually termed the "male Turner syndrome", is characterized by short stature, webbing of the neck, hypogonadism and cubitus valgus and occurs in males with a normal karyotype. A similar syndrome, but with normal gonadal development, occurs in girls. To avoid confusion with the 45XO Turner syndrome, it has been suggested that the syndrome be called the Noonan syndrome.Recent reports have confirmed the occurrence of the syndrome in families.We also have studied a case of two brothers aged fifteen and twelve years which illustrates some of the familial characteristics of the syndrome.They were not mentally retarded, but the elder had mental depression. So we were obliged to stop trying to correct his thoracic scoliosis because of his refusal.
- 西日本整形・災害外科学会の論文
著者
関連論文
- 72 胆道閉鎖症術後の骨変化について
- A case of alkaptonuria presenting rapidadvancing hip joint destruction.
- A Comparative Study of the Calcification Promoting Action of 1,25 (OH)2D3 and Thyroid Hormone on the Growht Cartilage of Rats with HEBP (hydroxyethylidene-1,1-biphosphonic acid) Induced Rickes.
- The effect of calcitonin on the growth cartilage of rats with HEBP induced rickekts.
- タイトル無し
- Severe OPLL in an Adult Case of Vitamin-D Resistant Rickets: A Case Report.
- Adult Onset Pseudoarthrosis of the Tibial in Von Recklinghausen's Disease. A Case Report.
- Ducroquet's Extension Brace for Treatment of Scoliosis
- Arthroscopic Examination and Surgery of the Hip Joint in Children.
- Two Cases of Metaphyseal Chondrodysplasia:An Ultrastructural Study of Growth Plate Cartilage
- Hyperlipoproteinemia in Idiopathic Necrosis of the Femoral Head in Adults
- Acid Phosphatase Isoenzymes in Bone Tumors:I. Giant Cell Tumors
- Two Cases of Osteoectasia with Hyperphosphatasia
- Asphyxiating thoracic dys plasia: A case report.
- A Case of Diastrophic Dwarfism
- Osteomalacia with distal renal tubular acidosis - Case report.
- Peroneal Spastic Flat Foot in Association with Congenital Tarsal Coalition
- Chondrodysplasia punctata - Long term follow up of 3 cases.:Long Term Follow Up of 3 Cases
- Resection and Reconstruction Operation of the Sternum A Case Report of Giant Cell Tumor
- Follow-up Studies of Treatment of Cervical Spondylosis
- Trephine Biopsy of the Vertebral Body by Cross Section Drawing
- Poland's Syndrome
- Usage experience of erythropoietin in autotransfusion.
- Isolated fracture-dislocation of the radial head. A case report.
- Use of the Pavlik Harness for Treatment of Congenital Dislocation of the Hip under 3 Months Old
- A Study of Harris-Galante Porous Total Hip Replacement. The Short Term Results and Problems.:The Short Term Results and Problems
- Dysplasia Epiphysealis Hemimelica; Report of Three Cases
- The effect of ethan-1-hydroxy-1, 1-Diphosphonate (EHDP) on the distribution and number of bone marrow mast cell in rat.
- A case of the thoracic spinal cord tumor recurred 15 years after operation.
- Skeletal Maturity of the Hand and Wrist in the Orthopedic Diseases
- Chondrodysplasia Punctata Report of Two Cases
- The effect of 1,25(OH)2D3 and calcitonin on the EHDP-induced rickets - Additive effect of 1,25(OH)2D3 and calcitonin.
- Significance of Functional Myelography of the Lumbar subarachinoideal Space
- Studies on Binding of the Tetracycline with Bone Salt
- The effect of administration of strontium chloride on the epiphyseal cartilage plate of rat tibia. Comparative study of strontium and EHDP rickets in the healing process.:Comparative Study of Strontium and EHDP Rickets in the Healing Process
- An Epidemiological Study of Osteoporosis in Kyushu-Some Observation on Metacarpal Index, Cortical Area and Aging
- Multiple epiphyseal dysplasia. Report of a pedigree.
- The Studies on Strontium Induced Richets:effects of calcium and strontium content in a diet
- The calcification-promoting action of 1,25(OH)2D3 and calcitonin in rat with 1-hydroxyethylidene-1, 1-bisphosphonate (HEBP=EHDP)-induced rickets - Comparative study of initial site of calcification in the growth plate.:Comparative study of initial site of
- Clinicopathological Study on 55 Cases of Giant Cell Tumor of Bone
- タイトル無し
- Autolytic Degradation of Articular Cartilage
- Uehlinger's Disease
- An Application of Fat Pedicle Flap for Neurolysis in Volkmann's Contracture
- Familial Occurrence of The Noonan Syndrome
- Conservative Treatment for Relatively Older Cases in Congenital Dislocation of the Hip
- Renal tubular acidosis associated with basal ganglia calcification A case report.
- タイトル無し
- Type Differentiation of Rickets
- A Case of Rickets Associated with Long-Term Anticonvulsant Therapy
- Effects of triiodothyronine on the growth cartilage of rats with HEBP induced rickets.
- Study on the expression of osteoid and calcified bone matrix in the various staining methods of decalcified and undecalcified bone sections.
- The Giant Cell Tumor, Appeared in the Sacrum Seven Years After the Amptuation of the Right Humerus:A Case Report
- The Treatment and Prognosis of Equinus Deformity in our Educational Institution
- The promotion of fracture callus calcification by imidazole in HEBP induced rickets.
- A radiological study on the development of the hip joint in the children treated with pavlik harness.
- Observations on Pulmonary Metastasis of Sarcomas
- A Case of Epithelioid Sarcoma
- A case of osteopetrosis with fracture of the lumbar neural arch.