McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature. 1994

N Pul, and M Pul, and Y Gedik
Department of Pediatrics, Karadeniz Technical and Trakya University, Medical Faculty Hospital Trabzon and Edirne, Turkey.

A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. To the best of our knowledge, this is the second report in the literature of this association.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D004933 Esophageal Atresia Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA. Atresia, Esophageal,Atresias, Esophageal,Esophageal Atresias
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014138 Tracheoesophageal Fistula Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA. Esophagotracheal Fistula,Esophagotracheal Fistulas,Fistula, Esophagotracheal,Fistula, Tracheoesophageal,Fistulas, Esophagotracheal,Fistulas, Tracheoesophageal,Tracheoesophageal Fistulas
D014599 Uterus The hollow thick-walled muscular organ in the female PELVIS. It consists of the fundus which is the site of EMBRYO IMPLANTATION and FETAL DEVELOPMENT. Beyond the isthmus at the perineal end of fundus, is CERVIX UTERI (the neck) opening into VAGINA. Beyond the isthmi at the upper abdominal end of fundus, are the FALLOPIAN TUBES. Fundus Uteri,Uteri,Uterine Cornua,Uterine Fundus,Uterus Cornua,Womb,Cornua, Uterine,Fundus Uterus,Fundus, Uterine,Uteri, Fundus,Wombs
D014621 Vagina The genital canal in the female, extending from the UTERUS to the VULVA. (Stedman, 25th ed) Vaginas
D017689 Polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. Hyperdactyly,Polydactylia,Polydactylism,Hyperdactylies,Polydactylias,Polydactylies,Polydactylisms

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