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10.1016/j.ajoc.2018.03.015 http://scihub22266oqcxt.onion/10.1016/j.ajoc.2018.03.015 C5956711!5956711!29780943     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Ophthalmol+Case+Rep 2018 ; 10 (ä): 244-8 Nephropedia Template TP {{tp|p=29780943|t=2018. Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome |pdf=|usr=}}{{29780943}} gab.com Text Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome JO: Am J Ophthalmol Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=29780943 #FOAvip Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance: Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography. Twit Text FOAVip Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome ????Am J Ophthalmol Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=29780943 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29780943 #FOAvip English Wikipedia <ref>{{Cite pmid|29780943}}</ref> Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome #MMPMID29780943 Gale MJ; Titus HE; Harman GA; Alabduljalil T; Dennis A; Wilson JL; Koeller DM; Finanger E; Blasco PA; Chiang PW; Karr DJ; Yang P Am J Ophthalmol Case Rep 2018[Jun]; 10 (ä): 244-8 PMID29780943show ga Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance: Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography. äLongitudinal ophthalmic findings in a child with Helsmoortel-Van der A(epmc).pdf DeepDyve Pubget Overpricing