Commonly affected anomalies are anorectal malformations (imperforate anus, anteriorly placed anus, anal stenosis), hand malformations (preaxial polydactyly, triphalangeal thumb, bifid thumb), external ear malformations (microtia, “satyr” or “lop” ear, preauricular tag or pits) with sensorineural hearing loss, and renal malformations. In addition, intellectual disability, learning problems, and ...

This report presents a 54-year-old woman with Goldenhar syndrome featuring an epibulbar dermoid, left microtia and a left preauricular appendage, and synostosis of the vertebrae. Multiple cardiovascular malformations including Wolff-Parkinson-White syndrome, a partial anomalous pulmonary venous connection, patent ductus arteriosus, an anomalous origin of the coronary arteries, and a right-sided...

BACKGROUND The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex - associated Malformation classification system (VCUAM). METHODS 290 women with MRKH syndrome were clinically evaluated with using clinical examinations...

DIABETES AND CONGENITAL MALFORMATIONS — Major congenital malformations remain the leading cause of mortality and serious morbidity in infants of mothers with type 1 or type 2 diabetes. Several studies have established an association between elevated maternal glucose or glycohemoglobin levels during embryogenesis and high rates of spontaneous abortions and major malformations in newborns. Clinic...

BACKGROUND Vascular malformations are clinical disorders in which endothelial cells fail to remodel and/or undergo programmed cell death, leading to abnormal persistence of blood vessels. The abnormal persistence of vessels makes therapy difficult because these lesions are resistant to interventions that are effective against hemangiomas. Akt1 is a serine-threonine protein kinase, which is a ke...

At birth, cyanotic malformations are about 20 per cent of all cardiac malformations. But only Fallot's tetralogy and transposition of the great arteries reach an incidence of the same order as ,several acyanotic malformations. In children at hospital clinics, only Fallot's tetralogy retains a similar position. The mortality of all cardiac malformations in the first year of life is very high, bu...

Computed tomographic (CT) studies were correlated with microscopic findings in 10 histologically verified cavernous hemangiomas in nine patients_ In four of the 10 lesions, two or more distinct types of cerebrovascular malformations were identified histopathologically. These included arteriovenous malformations, venous malformations, and telangiectasis. Such coexistence of various types of cere...

Pulmonary arteriovenous malformations are abnormal direct communications between pulmonary arteries and pulmonary veins. Transcatheter embolotherapy is the preferred treatment method because of its less invasive nature. There are several methods for the treatment of pulmonary arteriovenous malformations, such as detachable occlusion balloon and coil embolization. The Amplatzer Vascular Plug is ...

Mortality from congenital malformations by mother's country of birth was examined in England and Wales between the years 1976 and 1980, based on stillbirths and infant deaths. There were 18 870 stillbirths and infant deaths attributed to congenital malformations in this period, of which 2 375 (13%) were to mothers born outside the United Kingdom. There were excess deaths from malformations amon...