Results 91 to 100 of about 228,263 (297)
Cleidocranial dysplasia: A family report
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2009 A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD). Her father also presented similar features with a lesser
Chelvan H +3 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger +3 more
wiley +1 more source
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi +5 more
wiley +1 more source
Modelo computacional para caracterización de células escamosas de citologías cérvico-uterinas
Revista Colombiana de Biotecnología, 2005 El trabajo se realizó entre el Grupo de Investigación en Ingeniería Biomédica (GIIB) y el Grupo de Investigación en Patología Estructural, Funcional y Clínica de la Universidad Industrial de Santander (UIS), junto con la Facultad de Medicina de la ...
Martínez Abaunza Víctor Eduardo +2 more
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