Spinal vascular malformations (SVM) are rare diseases in comparison to vascular malforma‐ tions of the brain. Spinal dural arteriovenous fistulas (SDAVFs), also known as Type I spinal arteriovenous malformations, account for 70% of spinal vascular malformations, and are the most common vascular malformations of the spinal cord and its surrounding dura mater; however, they remain relatively unde...

Treacher Collins syndrome: abnormal first branchial arch development giving rise to malar and mandibular hypoplasia with external ear malformations. Dysmorphology is the study of malformations arising from abnormal embryogenesis. Recognition of patterns of multiple congenital malformations may allow inferences to be made about the timing, mechanism, and aetiology of structural defects. Animal r...

Limb body wallcomplex (LBWC) is a rare poly malformative syndrome of unknownorigin, comprising major anomalies the ventral wall (thoracoabdominal) associatedwithother anomalies, includingthose limbsthatmay range frompositionaldeformity to agenesis, unusualcraniofacial malformations, and variety visceral thatinclude heart, lungs, genitourinary system. Twophenotypes are describeddepending on feto...

OBJECTIVE To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of patholo...

OBJECTIVE To evaluate the occurrence of pulmonary arteriovenous malformations after a Fontan operation in the left isomerism and absent inferior vena cava. METHODS We retrospectively reviewed 19 patients with the left isomerism and absent inferior vena cava who underwent Fontan operations at our institution. We divided the patients into two groups: bilateral superior vena cava (group A, n=9),...

OBJECTIVES To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. DESIGN Longitudinal study. SETTING Danish national birth cohort. PARTICIPANTS Three groups of liveborn children and their mothers: 50,897 singletons and 1366 twins born of fert...

BACKGROUND Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. METHODOLOGY/PRINCI...

Although renal and cardiac malformations are commonly seen in Turner syndrome (TS), anorectal malformations, multicystic dysplastic kidney and interrupted aortic arch are quite rare in TS. A newborn with TS with three quite rare congenital malformations (imperforate anus/anal atresia associated with rectovestibular fistula, interrupted aortic arch, and multicystic dysplastic kidney) is presented.

The vast majority of cerebral vascular malformations reported in the antenatal literature are aneurysmal malformations of the vein of Galen. Other types of intracranial vascular malformations are exceptional in fetuses. The authors present a case of prenatal diagnosis of intracranial pial arteriovenous fistula, not involving the vein of Galen and not showing abnormal intracranial anatomic featu...

A single stillborn female with craniofacial, abdominal, and central nervous system malformations was exposed to reserpine during the first six weeks of gestation. Parallels between the malformations present in this infant and those induced in rats through exposure to reserpine at analogous periods of gestation suggest that reserpine may pose specific risks for malformations in some pregnancies.