Bilateral femoral fractures during birth, in a neonate with malformation complex with stiffness by Nikolaos Laliotis, Konstantia Tsoni, Panagiotis Konstantinidis, Eleni Agakidou, Chrysanthos Chrysanthou

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Distal Arthrogryposis in Newborn: Clinical Case by Vasily P. Gavrilyuk, Yana V. Evseeva, Oleg V. Cherevko, Dmitry A. Severinov

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TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis by Anik Biswas, Sudipta Deb Nath, Tamim Ahsan, M. Monir Hossain, Sharif Akhteruzzaman, Abu Ashfaqur Sajib

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Freeman-Sheldon syndrome - a course of the disease from birth to adulthood by K. Wróblewska-Seniuk, G. Jarząbek-Bielecka, W. Kędzia

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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects by Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, Michael Regnier, Michael J. Bamshad

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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN... by A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali

Subjects: “…syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation…”
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Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families by Yu Sui, Yongping Lu, Meina Lin, Xinren Chen, Xiang Ni, Huan Li, Miao Jiang

Subjects: “…Congenital contractural arachnodactyly (CCA)…”
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Congenital Contractural Arachnodactyly by J Gordon Millichap

Subjects: “…congenital contractural arachnodactyly…”
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A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly by Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang

Subjects: “…Congenital contractural arachnodactyly…”
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FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations by Yazhou Huang, Xingxin Fang, Linya Ma, Jibo Zhang, Chao Wang, Taoran Gao, Dan Peng

Subjects: “…Congenital contractural arachnodactyly…”
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Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly by An-Lei Li, An-Lei Li, Ji-Qiang He, Ji-Qiang He, Lei Zeng, Lei Zeng, Yi-Qiao Hu, Yi-Qiao Hu, Yi-Qiao Hu, Min Wang, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang

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Seizures as an Atypical Feature of Beal’s Syndrome by Nazreen B. K. Jaman, Abeer Al-Sayegh

Subjects: “…congenital contractural arachnodactyly…”
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Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3 by Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo

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Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly by Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang

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Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report by Rosana Herminia Scola, Lineu Cesar Werneck, Fabio Massaiti Iwamoto, Letícia Cristine Ribas, Salmo Raskin, Ylmar Correa Neto

Subjects: “…congenital contractural arachnodactyly…”
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A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant by Kouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, Tomomi Yamaguchi, Yoshinori Kawabata, Yuko Inai, Shogo Imamura, Sakiko Sanada

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Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family by Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

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