scholarly journals Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

2015 ◽  
Vol 02 (01) ◽  
pp. 033-036
Author(s):  
Dalibor Kurepa ◽  
Yiping Shen ◽  
Venkatakrishna Kakkilaya ◽  
Sussone Ursin ◽  
Harold Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Sequence Variation ◽  
Male Infant ◽  
Syndrome Type ◽  
Otopalatodigital Syndrome

Oro facial digital syndrome type 2- An Indian case report

2016 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Naresh Bansal ◽  
Ashok Gupta ◽  
Manisha Goyal ◽  
Manish Sharma ◽  
Priyanshu Mathur ◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type

scholarly journals Bilateral Tibial Proximal Fractures Caused by Secondary Osteomalacia due to Autoimmune Polyendocrine Syndrome Type 2: A Case Report

2021 ◽  
Vol 11 (4) ◽  
Author(s):  
Daisuke Nakagawa ◽  
Keisuke Oe ◽  
Tomoaki Fukui ◽  
Ryosuke Kuroda ◽  
Takahiro Niikura
Keyword(s):  
Case Report ◽  
Pharmacological Treatment ◽  
Plate Osteosynthesis ◽  
Deformity Correction ◽  
Serum Phosphate ◽  
Tibial Osteotomy ◽  
Syndrome Type ◽  
Radiographic Findings ◽  
Autoimmune Polyendocrine Syndrome

Introduction: Hypophosphatemic osteomalacia can be overlooked or confused with other musculoskeletal disorders due to the variety of associated clinical, laboratory, and radiographic findings. If osteomalacia is diagnosed early and the fractures are not displaced, they often heal with nutritional supplements, but, if they progress to displaced fractures, they may require surgical intervention. Case Report: We present a case of secondary osteomalacia due to autoimmune polyendocrine syndrome Type 2 due to this condition, the patient developed bilateral tibial proximal fractures and her varus deformity had progressed. No clear indication of the timing for surgery for adults with osteomalacia has been reported. However, medical treatment improves the symptoms of osteomalacia and it is reported that in children, appropriate level of the serum phosphate (P) should be attained and maintained for the successful bone healing after osteotomy. Therefore, we prioritized pharmacological treatment and prescribed surgery after confirming that the value of serum phosphate P had been improved to recommended levels (2.5-3.5 mg/dl). We performed high tibial osteotomy for the right side and gradual correction by an external fixation for the left tibia, because of more severe deformation, and converted to an internal fixation to shorten the treatment period. During conversion, we performed the operation with a locking plate by the minimal invasive plate osteosynthesis method (MIPO). Conclusion: We conclude that the use of different deformity correction methods, depending on the degree of deformity, and the pharmacological treatment of osteomalacia may lead to favorable results. Keywords: Osteomalacia, autoimmune polyendocrine syndrome type 2, deformity correction method.

scholarly journals Autoimmune Polyglandular Syndrome Type 2 (APS-2) in a 70-Year-Old Woman: A Case Report

2019 ◽  
Vol 27 (124) ◽  
pp. 47-51
Author(s):  
Shahin Besharati ◽  
Pouria Tavakkolian ◽  
Roghayeh Borji ◽  
◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyglandular Syndrome Type

scholarly journals Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report

2015 ◽  
Vol 9 (1) ◽  
Author(s):  
Nikolaos Bounakis ◽  
Christos Karampalis ◽  
Hilary Sharp ◽  
Athanasios I Tsirikos
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Syndrome Type

scholarly journals Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

2008 ◽  
Vol 41 (10) ◽  
pp. 839-848 ◽  
Author(s):  
I.P. Meschede ◽  
T.O. Santos ◽  
T.C. Izidoro-Toledo ◽  
J. Gurgel-Gianetti ◽  
E.M. Espreafico
Keyword(s):  
Case Report ◽  
Gene Structure ◽  
Syndrome Type ◽  
Griscelli Syndrome
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