a holstein heifer with symptoms of dystocia was admitted in the large animal clinic at the university of tabriz. in the vaginal examination, the fetus was found at posterior presentation and by doing someobstetrical maneuvers, a male calf was delivered. an interesting phenomenon was the presence of two skinsacs in dimensions of 12 × 12 cm and 12 × 18 cm at the right and left upper cervical regi...

BACKGROUND Inherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia. CASE PRESENTATION Herein, we describe a case of congenital disorder of glycosylation Ia, presented with recurrent pericardial effusion and unusual findings of inverted nipples, fat pads, reduced deep-tendon reflexes and multisystem involvement. ...

BACKGROUND Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but ther...

background and objective: the aim of this study was to analyze our indications, surgical procedures, and clinical outcomes of patients undergoing reoperation after surgical correction of tetralogy of fallot (tof). methods: thirty seven consecutive patients who underwent reoperation late after intra-cardiac repair of tof within a period of 10 years were assessed. results: the most common indicat...

congenital hepatic fibrosis (chf) is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (chf). prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affec...

Darierdisease(DD)is a rare congenital acantholytic disorder characterised by persistent eruptions of greasy, hyperkeratotic papules in seborrhoeic areas, extremities and rarely intertriginous areas.Nail abnormalitiesand mucous membraneinvolvement also occurs. A neuropsychiatricdisordercan be present occasionally. We are reporting case Darier disease male child born consanguineous marriage coexi...