Results 101 to 110 of about 3,806 (220)
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
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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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Inheritance involved in the pathogenesis of idiopathic scoliosis [PDF]
, 2008 Idiopathic scoliosis is a common cause of spinal deformity in children and adolescents. Although the incidence of the scoliosis is up to 2 %-3 % of the world’s population, the pathogenesis is still obscure.
Fan, Xing, Li, Ming, Shangguan, Lei
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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 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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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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Aetiological factors for developmental defects of enamel [PDF]
, 2014 Developmental defects of enamel remain as a permanent record of a disturbance during amelogenesis. They may present in different forms, some of which may be perceived by an individual as being disfiguring and so requiring treatment to improve the ...
Wong, HM
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Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report [PDF]
, 2009 Zoran S Gucev +25 more
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Turkish Journal of Hematology, 2008 We present herein a 23-year-old man with acute myeloblastic leukemia (AML) associated with Davidoff-Dyke-Masson syndrome (DDMS) and Marfan syndrome (MS).
Ahmet Faik Öner +3 more
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