1. Primrose syndrome: Characterization of the phenotype in 42 patients
- Author
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Melis, D.A.M. (Danielle), Carvalho, D. (Daniel), Barbaro-Dieber, T. (Tina), Espay, A.J. (Alberto J.), Gambello, M.J. (Michael J.), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Hitzert, M.M. (Marrit M.), Hove, H.B. (Hanne B.), Jansen, S. (Sandra), Jira, P.E. (Petr), Lachlan, K. (Katherine), Menke, L.A. (Leonie), Narayanan, V. (Vinodh), Ortiz, D. (Damara), Overwater, E. (Eline), Posmyk, R. (Renata), Ramsey, K. (Keri), Rossi, A. (Alessandro), Sandoval, R.L. (Renata Lazari), Stumpel, C. (Connie), Stuurman, K.E. (Kyra), Cordeddu, V. (Viviana), Turnpenny, P. (Peter), Strisciuglio, P. (Pietro), Tartaglia, M. (Marco), Unger, S. (Sheela), Waters, T. (Todd), Turnbull, C. (Clare), Hennekam, R.C.M. (Raoul), Melis, D.A.M. (Danielle), Carvalho, D. (Daniel), Barbaro-Dieber, T. (Tina), Espay, A.J. (Alberto J.), Gambello, M.J. (Michael J.), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Hitzert, M.M. (Marrit M.), Hove, H.B. (Hanne B.), Jansen, S. (Sandra), Jira, P.E. (Petr), Lachlan, K. (Katherine), Menke, L.A. (Leonie), Narayanan, V. (Vinodh), Ortiz, D. (Damara), Overwater, E. (Eline), Posmyk, R. (Renata), Ramsey, K. (Keri), Rossi, A. (Alessandro), Sandoval, R.L. (Renata Lazari), Stumpel, C. (Connie), Stuurman, K.E. (Kyra), Cordeddu, V. (Viviana), Turnpenny, P. (Peter), Strisciuglio, P. (Pietro), Tartaglia, M. (Marco), Unger, S. (Sheela), Waters, T. (Todd), Turnbull, C. (Clare), and Hennekam, R.C.M. (Raoul)
- Abstract
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions
- Published
- 2020
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