International Evaluation of Unrecognizably Uglifying Human Faces in Late and Severe Secondary Hyperparathyroidism in Chronic Kidney Disease. Sagliker Syndrome. A Unique Catastrophic Entity, Cytogenetic Studies for Chromosomal Abnormalities, Calcium-Sensing Receptor Gene and GNAS1 Mutations. Striking and Promising Missense Mutations on the GNAS1 Gene Exons 1, 4, 10, 4

Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome

“…It is also known that the resulting gene dosage imbalance of aneuploidies has a noticeable effect on the phenotype. We think that the aneuploidies of chromosomes 1,3,8,10,12,13,15,16,17,19,20, and 22 that we found in our patients could also be of great importance in terms of early diagnosis and evaluation of the prognosis of SS. Seventeen gaps, two chromatid breaks, and FS at bands q23x17, p31, q23, and p23 on chromosome 2 were also seen in four patients in our study.…”

“…This syndrome starts and develops particularly before puberty while chronic kidney disease (CKD) reaches the stage III level and as a continuation of secondary hyperparathyroidism. Defining prominent features of CKD, including uglifying human facial appearance, short stature, extremely severe maxillary and mandibulary changes, soft tissues in the mouth, teeth-dental abnormalities, fingertip changes, neurologic manifestations, audiological findings, and severe psychological problems (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13) (Figures 1 and 2), are also important findings for this unique syndrome. The etiology of SS is not known.…”

“…There is a proposal about a cytogenetic definition in the etiology of CKD patients. This was based on reports that papillary renal cell carcinomas have gains of chromosomes 7,12,16,17, and 20, whereas small papillary renal tumors have only gains of chromosomes 7 and 17 and loss of the Y chromosome (14)(15)(16)(17) . Gains of chromosomes 7 and 17 and loss of the Y chromosome in renal papillary adenoma were also reported (18).…”

Clinical status of Sagliker syndrome: a case report and literature review

“…Late SHPT, inappropriate treatment modalities due to monetary deficiencies, socioeconomic insufficiencies and iatrogenic mistreatments may play the major part in the genesis of SS. 6 Previous study suggested that osteoporosis was caused by SS per se. Laboratory text, such as thyroid function, growth hormone levels and sex hormone levels showed no striking differences in SS.…”

Gene Mutations in Chronic Kidney Disease Patients With Secondary Hyperparathyroidism and Sagliker Syndrome

“…SS is associated with CKD, SH, hypocalcemia, hyperphosphatemia, irregularly scattered innocent tumoral accumulations in skull and face bones, unique and serious facial deformities which is unrecognizably uglifying human face appearance, short stature, extremely severe destructional nasal, maxillary and mandibular changes, irregularly located teeth and dental abnormalities, innocent soft tissue accumulations in the upper oral cavities, type 2 malocclusion of the maxillary bones (frontal forward and upward malformation of the upper jaws), curved finger tip changes, x-or o-type knee deformities, and crippled walking in particularly left legs, abnormal scapulas, neurologic manifestations, audiologic findings, hearing abnormalities, and severe psychological problems [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] (Table 1 and Figs. 1 and 2).…”