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10.1186/s13256-018-1704-1 http://scihub22266oqcxt.onion/10.1186/s13256-018-1704-1 C6032534!6032534!29973257     free     free     free Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Med+Case+Rep 2018 ; 12 (ä): ä Nephropedia Template TP {{tp|p=29973257|t=2018. A rare case of seven siblings with Waardenburg syndrome: a case report |pdf=|usr=}}{{29973257}} gab.com Text A rare case of seven siblings with Waardenburg syndrome: a case report JO: J Med Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=29973257 #FOAvip Background: Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The main clinical manifestations are facial abnormalities, pigmentary defects, and hearing loss with no specific predilection with regard to sex or race. Case presentation: An Arabic Syrian family, consisting of 14 siblings from third-degree relative parents with a low income, living in the Syrian countryside, presented to our institute with their 8-year-old son who had congenital hearing loss that had led to his inability to speak.He has six siblings who had congenital sensory hearing loss proven by auditory brainstem response tests at an early age. An otoacoustic emissions test and a pure-tone audiogram were performed for our patient and showed sensory hearing loss.An interesting feature in the last seven siblings was that some of them have heterochromia iris, and the others have segmental heterochromia in their iris.An ophthalmology consultation was performed to detect any other features or disorders. A dermatology consultation, laboratory tests, and chest X-ray were also performed for all the siblings and revealed no abnormalities. There was no history for musculoskeletal system or intestinal disorders. Based on the Waardenburg criteria, our patient and his six siblings all have Waarenburg syndrome. Conclusions: Although the inheritance of Waardenburg syndrome is autosomal dominant, de novo cases of this rare syndrome are mentioned in the medical literature. We report a unique case of seven siblings with Waardenburg syndrome. This case report shows the crucial role of consanguineous parents on this syndrome, and indicates that the number of children with this rare syndrome is increasing. Twit Text FOAVip A rare case of seven siblings with Waardenburg syndrome: a case report ????J Med Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=29973257 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29973257 #FOAvip English Wikipedia <ref>{{Cite pmid|29973257}}</ref> A rare case of seven siblings with Waardenburg syndrome: a case report #MMPMID29973257 Haj Kassem L; Ahmado MF; Sheikh Alganameh M J Med Case Rep 2018[]; 12 (ä): ä PMID29973257show ga Background: Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The main clinical manifestations are facial abnormalities, pigmentary defects, and hearing loss with no specific predilection with regard to sex or race. Case presentation: An Arabic Syrian family, consisting of 14 siblings from third-degree relative parents with a low income, living in the Syrian countryside, presented to our institute with their 8-year-old son who had congenital hearing loss that had led to his inability to speak.He has six siblings who had congenital sensory hearing loss proven by auditory brainstem response tests at an early age. An otoacoustic emissions test and a pure-tone audiogram were performed for our patient and showed sensory hearing loss.An interesting feature in the last seven siblings was that some of them have heterochromia iris, and the others have segmental heterochromia in their iris.An ophthalmology consultation was performed to detect any other features or disorders. A dermatology consultation, laboratory tests, and chest X-ray were also performed for all the siblings and revealed no abnormalities. There was no history for musculoskeletal system or intestinal disorders. Based on the Waardenburg criteria, our patient and his six siblings all have Waarenburg syndrome. Conclusions: Although the inheritance of Waardenburg syndrome is autosomal dominant, de novo cases of this rare syndrome are mentioned in the medical literature. We report a unique case of seven siblings with Waardenburg syndrome. This case report shows the crucial role of consanguineous parents on this syndrome, and indicates that the number of children with this rare syndrome is increasing. äA rare case of seven siblings with Waardenburg syndrome: a case report(epmc).pdf DeepDyve Pubget Overpricing