A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea

Al-Gazali, 1994, Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?, Clin Dysmorphol, 3, 238 Al-Gazali, 1999, Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome, Clin Dysmorphol, 8, 87 Thong, 2005, Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family, Clin Dysmorphol, 14, 1, 10.1097/00019605-200501000-00001 Nakajima, 2013, Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders, Am J Hum Genet, 92, 927, 10.1016/j.ajhg.2013.04.003 Hernandez, 1979, A distinct variant of the Ehlers-Danlos syndrome, Clin Genet, 16, 335, 10.1111/j.1399-0004.1979.tb01012.x Hernandez, 1981, Third case of a distinct variant of the Ehlers-Danlos syndrome (EDS), Clin Genet, 20, 222, 10.1111/j.1399-0004.1981.tb01833.x Hernandez, 1986, Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome, Clin Genet, 30, 456, 10.1111/j.1399-0004.1986.tb01910.x Almeida, 1999, Cloning and expression of a proteoglycan UDP-galactose: Beta-xylose beta 1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family, J Biol Chem, 274, 26165, 10.1074/jbc.274.37.26165 Faiyaz-Ul-Haque, 2004, A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type, Am J Med Genet A, 128, 39, 10.1002/ajmg.a.30005 Guo, 2013, Redefining the progeroid form of Ehlers-Danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature, Am J Med Genet A, 161, 2519