Rapp-Hodgkin ectodermal dysplasia syndrome
نویسنده
چکیده
Gross R E, Neuhauser E B D. Compression of the trachea by an anomalous innominate artery: an operation for its relief. Am J Dis Child 1948; 75: 570-4. 2 Fearon B, Shortreed R. Tracheobronchial compression by congenital cardiovascular anomalies in children. Syndrome of apnea. Ann Otol Rhinol Laryngol 1963; 72: 949-69. 3 Mustard W T, Bayliss C E, Fearon B, Pelton D, Trusler G A. Tracheal compression by the innominate artery in children. Ann Thorac Surg 1969; 8: 312-9. 4 Keith H H. Vascular rings and tracheobronchial compression in infants. Pediatr Ann 1977; 6: 540-9. 5 Maurseth K. Tracheal stenosis caused by compression from the innominate artery (in French). Ann Radiol (Paris) 1966; 9: 287-94.
منابع مشابه
Rapp Hodgkin Syndrome
© 2017 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Ectodermal dysplasias are a heterogeneous group of disorders resulting from abnormalities of structures derived from embryonic ectoderm (skin, teeth, and appendage). Rapp Hodgkin Syndrome (RHS) is a type of anhidrotic ectodermal dysplasia, which was described by Rapp and Hodgkin in 1968.[1] This syndrome is character...
متن کاملR298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy.
Mutations in the p63 gene have been identified in five types of syndromic ectodermal dysplasias (EDs) with overlapping phenotypes: Ectrodactyly-Ectodermal dysplasia-Clefting (EEC syndrome, MIM 604292), Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC syndrome, MIM 106260) [3], Acro-Dermato-Ungueal-Lacrimal-Tooth (ADULT syndrome, MIM 103285), Rapp-Hodgkin (RHS syndrome, MIM 129400) and Limb-Ma...
متن کاملAnhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.
Ectodermal dysplasia involves faulty development of embryonic ectoderm and its subsequent derivatives. Cockayne (1933) described 200 defects of ectodermal origin. It has been suggested that cases fall into two clinical and genetical groups (Weech, 1929). The hidrotic form appears usually to be determined by an autosomal dominant gene and the anhidrotic (or hypohidrotic) form by an X-linked rece...
متن کاملFunctional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes
Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is...
متن کاملسندرم Ectrodactyly– ectodermal dysplasia clefting: گزارش مورد به همراه علائم دهانی
Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications. Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...
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