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Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Clin+Dysmorphol 2011 ; 20 (1): 15-20 Nephropedia Template TP
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Cutaneous features in 17q21 31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome #MMPMID21084979
Burkitt Wright E; Donnai D; Johnson D; Clayton-Smith J
Clin Dysmorphol 2011[Jan]; 20 (1): 15-20 PMID21084979show ga
Microdeletion of 17q21.31 causes a recurrent recognisable dysmorphic syndrome. Four further patients with 17q21.31 microdeletions are reported here where previously the diagnosis of cardio-facio-cutaneous (CFC) syndrome was suggested. These patients have significant similarities of facial gestalt to previously reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasised previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, had led to the previous diagnostic suggestion of CFC syndrome in each of these four cases.