Thirteen mutant genes of the mouse have been scanned for the occurrence of anomalies of glands of the head region and of the Chievitz organ. In eight of these (ic/ic; my/my; Ph/Ph; Xt/Xt; Cd/Cd;fi/fi; or/or and ch/ch) such anomalies have been discovered; most of them are absence or reduction in size of a gland, but increases in size or numbers have also been seen. The anomalies are mainly and p...

Systemic sclerosis with pulmonary arterial hypertension (SSc-PAH) is a debilitating and frequently lethal disease of unknown cause lacking effective treatment options. Lymphocyte anomalies and autoantibodies observed in systemic sclerosis have suggested an autoimmune character. Here we study the clonal structure of the B-cell repertoire in SSc-PAH using immunoglobulin heavy-chain sequencing bef...

BACKGROUND Diphallus is an extremely rare anomaly. Numerous associated genitourinary, gastrointestinal and other anomalies have been described with diphallus. These patients need several investigations, and finally surgical intervention. CASES PRESENTATION In this report we discuss six patients with diphallus which evaluated retrospectively. Five patients had complete diphallia, and one had b...

Congenital anomalies pose a huge threat to the affected and susceptible individuals significantly impair their lives. In addition, congenital dental are also serious issue can be associated with certain complications. It has been shown development of these disorders might found as single disorder or part another systemic syndrome. The present literature review provides an overview anomalies. Di...

PURPOSE To determine the long-term risk of retinal detachment following pediatric cataract surgery and to identify risk factors for retinal detachment. METHODS We included all children (aged 0 to 17 years) who during the time period of 1977 to 2005 underwent pediatric cataract surgery in Denmark, excluding cataract cases caused by trauma, or acquired systemic or acquired ocular pathology, and...

Noonan syndrome is a multiple congenital anomaly condition characterized by craniofacial anomalies, short stature, cardiac malformations, and normal peripheral blood karyotype analysis. Prior reports of individuals with Noonan syndrome have revealed an association with several autoimmune diseases, including vasculitis and anterior uveitis, but no reports of systemic lupus erythematosus (SLE). H...

studyof 4 cases of uncoplicated total anomalous pulmlonalry venous drainage, in connection with the systemic circuit is in the region of the porta hepatis, revealed similar clinical and radiologic findings, so that in the fourth case the diagnosis was suspected and confirmed by angiocardiographic study. Mainly due to the obstruction of pulmonary venous outflow, this form of total anomalous pulm...

INTRODUCTION The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or sur...

BACKGROUND Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. CASE PRESENTATION A 5-year-old female child presented with short history of jaundice. A provisional ...