Results 71 to 80 of about 240,041 (144)

Congenital Contractural Arachnodactyly

, 1991
RESUMEN: El síndrome de la aracnodactilia contractural es una alteración hereditaria del tejido conectivo, caracterizada por múltiples contracturas congénitas, aracnodactilia, dolicostenomelia, cifoescoliosis, dismorfia de los pabellones auriculares y un
Mejía, Amanda, Nishikuni, Betty, Ramírez Castro, José Luis   +2 more
core  

A 36-Year-Old Female With Congenital Contractural Arachnodactyly and Pectus Excavatum Requiring Fourth-Time Redo Surgical Correction. [PDF]

Cureus, 2021
Dada RS, Hayanga JW, Abbas Khan MA, Toker A, Hayanga HK.   +4 more
europepmc   +1 more source

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome.
Mina Nakama, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi, Yuki Miwa   +4 more
core   +1 more source

Galloway-Mowat Syndrome in Taiwan

, 2008
　　We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly.
侯家瑋;王作仁, HOU, JIA-WOEI;WANG, TSO-REN   +1 more
core  

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. [PDF]

J Assist Reprod Genet, 2016
Chen L, Diao Z, Xu Z, Zhou J, Wang W, Li J, Yan G, Sun H.   +7 more
europepmc   +1 more source

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]

Biochem Genet
Zhang C, Qiao F, Cheng Q, Luo C, Zhang Q, Hu P, Xu Z.   +6 more
europepmc   +1 more source

Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactyly. [PDF]

Int J Tuberc Lung Dis, 2012
Paulson ML, Olivier KN, Holland SM.
europepmc   +1 more source

Congenital contractural arachnodactyly.

Indian pediatrics, 1996
M L, Kulkarni, C S, Kumar, V, Venkataramana, V G, George, M, Bhagyavathi   +4 more
openaire   +1 more source

Congenital contractural arachnodactyly.

Journal of postgraduate medicine, 1978
N B, Kumta, S F, Irani, R R, Sekhri, D V, Punwani   +3 more
openaire   +1 more source

Congenital contractural arachnodactyly.

The Western journal of medicine, 1974
M S, Hale, H D, Rodman, J, Lipshin
openaire   +1 more source