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A homozygous<i>B3GAT3</i>mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes 由 Kelly L. Jones, Ulrike Schwarze, Margaret P Adam, Peter H. Byers, Heather C. Mefford

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P09.22: Congenital arthrogryposis: report of recurrency 由 R. S. Oliveira, Alanna M.P.S. Bezerra, C.L. Drummond, L. R. Zitron, Eduardo Cordioli

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Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy 由 Leah R. Fleming, Monica E. Lemmon, Natalie Beck, Maria R. Johnson, Weiyi Mu, David R. Murdock, Joann Bodurtha, Julie Hoover‐Fong, Ronald D. Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

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A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly 由 Periklis Makrythanasis, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis

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Prader-Willi syndrome 由 Suzanne B. Cassidy, Stuart Schwartz, Jennifer Miller, Daniel J. Driscoll

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Congenital contractural arachnodactyly (Beals syndrome). 由 Denis Viljoen

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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome 由 Virginie Carmignac, Julien Thevenon, Lesley C. Adès, Bert Callewaert, Sophie Julia, Christel Thauvin‐Robinet, Lucie Gueneau, Jean‐Benoît Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne H. Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, P. Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sánchez del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod‐Béroud, Christophe Béroud, Jeanne Amiel, Valérie Cormier‐Daire, Jean‐Baptiste Rivière, Cathérine Boileau, Anne De Paepe, Laurence Faivre

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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome 由 Natascia Anastasio, Tawfeg Ben‐Omran, Ahmad S. Teebi, Kevin Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome‐Majewska

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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 由 Vered Molho‐Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

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Multiple pterygium syndrome: evolution of the phenotype. 由 Elizabeth M. Thompson, D Donnai, M Baraitser, C. Michael Hall, Marcus Pembrey, J. A. Fixsen

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Evaluation of treatment for camptodactyly: retrospective analysis on 40 fingers 由 Saulo Fontes Almeida, Anderson Vieira Monteiro, Rúbia Carla da Silva Lanes

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Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly 由 Rebecca J. Richardson

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The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1 由 Sultan Bahabri, Wafaa M. Suwairi, Ronald M. Laxer, Alexander Polinkovsky, Abdullah Al Dalaan, Matthew L. Warman

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Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype 由 Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael A. Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra E. Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

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Congenital contractural arachnodactyly (Beals syndrome) 由 Ergül Tunçbılek, Yasemin Alanay

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Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome 由 Saskia M. Maas, Maria Lombardi, A. J. van Essen, Emma Wakeling, B. Castle, I. Karen Temple, Vibhore Kumar, Karin Writzl, Raoul C. M. Hennekam

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NALCN channelopathies 由 Eric G. Bend, Yue Si, David A. Stevenson, Pınar Bayrak‐Toydemir, Tara Newcomb, Erik M. Jørgensen, Kathryn J. Swoboda

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Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability 由 Bruno Faulin Gamba, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Carla Rosenberg, Ana C.V. Krepischi Santos, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

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Determining the frequency of morphological characteristics in a sample of Brazilian children 由 Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrósio Fock, Ana Beatriz Alvarez Pérez, Décio Brunoni

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TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor 由 Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

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