Results 81 to 90 of about 3,083 (188)
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 +3 more
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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 +4 more
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Unveiling a novel pathogenic SKI variant in a child with Shprintzen Goldberg syndrome
Journal of Rare DiseasesShprintzen-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
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Marfan's syndrome: an overview
São Paulo Medical JournalMarfan'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
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, 2017 Clinical features of the patient showing facial appearance, dolichocephaly, the pectus deformity, arachnodactyly, the thumb sign, and pes planus.
Yan Deng (159032) +3 more
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, 2002 Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS.
Ades, LC +13 more
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