Results 71 to 80 of about 2,852 (190)

A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly

, 1997
SummaryCongenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome.
Maslen, Cheryl, Raghunath, Michael, Michael Raghunath, Babcock, Darcie, Cheryl Maslen, Darcie Babcock, Steinmann, Beat, Beat Steinmann   +7 more
core   +1 more source

Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj  

Mutation Analysis of Fibrillin-2 (FBN2) and Microfibril Associated Protein-3 (MFAP-3): Two Genes Associated with Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s Syndrome

, 1996
Congenital Contractural Arachnodactyly (CCA), also known as Beal\u27s syndrome, is an autosomal dominant disorder characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, and scoliosis with only rare ocular or ...
Babcock, Darcie
core   +1 more source

Haim-Munk syndrome

Journal of Indian Society of Periodontology, 2010
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis.
Pahwa Priyanka, Lamba Arundeep, Faraz Farrukh, Tandon Shruti   +3 more
doaj  

Additional file 1: of A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

, 2017
Clinical features of the patient showing facial appearance, dolichocephaly, the pectus deformity, arachnodactyly, the thumb sign, and pes planus.
Yan Deng (159032), Hanmin Liu (111673), Yuan Yang (151457), Qian Peng (74762)   +3 more
core   +1 more source

Marfan syndrome associated to pectus carinatum: a case report from cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2011
Marfan syndrome (MFS) is the most common connective tissue inherited disorder,transmitted as an autosomic dominant character. Mutation is located in FBN1 allele,that encodes to Fibrilin-1.
Malambo-García Dacia I, Mora-García Gustavo J., Pomares-Estrada José C, Gómez-García Cristian (q.e.p.d.), Gómez-Camargo Doris E.   +4 more
doaj  

Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome

Journal of Rare Diseases
Shprintzen-Goldberg syndrome is a rare entity attributed to SKI gene variants. It is characterized by facial dysmorphism, craniosynostosis, and abnormalities in musculoskeletal, cardiovascular, and neurodevelopmental systems. The musculoskeletal features
Payal Mittal, Ritika Singh, Kapil Bhalla
doaj   +1 more source

Marfan's syndrome: an overview

São Paulo Medical Journal
Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in
Shi-Min Yuan, Hua Jing
doaj   +1 more source

Arachnodactyly [PDF]

Archives of Disease in Childhood, 1929
openaire   +2 more sources

Arachnodactyly [PDF]

Proceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources