Background: (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.
Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.
Methods: We collected three clinical files of fetuses having a TAC.
We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges).
View Article and Find Full Text PDFUltrasound Obstet Gynecol
December 2006
Objectives: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys.
Methods: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later.
Objective: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS).
Methods: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included.