Ontology highlight
ABSTRACT:
SUBMITTER: Priolo M
PROVIDER: S-EPMC6175110 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Priolo Manuela M Schanze Denny D Tatton-Brown Katrin K Mulder Paul A PA Tenorio Jair J Kooblall Kreepa K Acero Inés Hernández IH Alkuraya Fowzan S FS Arias Pedro P Bernardini Laura L Bijlsma Emilia K EK Cole Trevor T Coubes Christine C Dapia Irene I Davies Sally S Di Donato Nataliya N Elcioglu Nursel H NH Fahrner Jill A JA Foster Alison A González Noelia García NG Huber Ilka I Iascone Maria M Kaiser Ann-Sophie AS Kamath Arveen A Liebelt Jan J Lynch Sally Ann SA Maas Saskia M SM Mammì Corrado C Mathijssen Inge B IB McKee Shane S Menke Leonie A LA Mirzaa Ghayda M GM Montgomery Tara T Neubauer Dorothee D Neumann Thomas E TE Pintomalli Letizia L Pisanti Maria Antonietta MA Plomp Astrid S AS Price Sue S Salter Claire C Santos-Simarro Fernando F Sarda Pierre P Segovia Mabel M Shaw-Smith Charles C Smithson Sarah S Suri Mohnish M Valdez Rita Maria RM Van Haeringen Arie A Van Hagen Johanna M JM Zollino Marcela M Lapunzina Pablo P Thakker Rajesh V RV Zenker Martin M Hennekam Raoul C RC
Human mutation 20180625 9
Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, ...[more]