1/4. Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or dna analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/4. Antenatal diagnosis and obstetric management of cystic hygroma occurring in twin pregnancies. A case report.The lymphatic system has an early development in the embryo. Usually, its development is complete by the 40th postconceptional day. If this connection fails to develop, lymphatic stasis and dilatation of the lymphatic channels may occur, causing a number of pathologies such as: lymphangiomas, lymphangiectasis and cystic hygromas. prenatal diagnosis can be made during the first trimester of pregnancy by ultrasonographic examination. A case of a twin pregnancy associated with cystic hygroma and bilateral hypoplasia of lower and upper limbs of both foetuses without chromosomal abnormalities is reported.- - - - - - - - - - ranking = 0.56297839506173keywords = pregnancy (Clic here for more details about this article) |
3/4. Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report.trisomy 18 is the second most common multisystem malformation syndrome. We present here a case of a fetus with trisomy 18, in which upper limb reduction was detected prenatally, as an isolated defect, at 17 weeks of gestation. The pregnancy was terminated by vaginal administration of misoprostol, and postmortem examination confirmed the ultrasound findings, including bilateral upper limb reduction with radial aplasia, absent first metacarpal and thumb and ventrally hyperflexed hands. This case demonstrates the need for thorough ultrasound evaluation of the fetal hands, as early as possible, because upper limb deformities can be the only abnormality of trisomy 18.- - - - - - - - - - ranking = 1.2814891975309keywords = gestation, pregnancy (Clic here for more details about this article) |
4/4. A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report.Thoracoschisis is a very rare congenital anomaly and is usually associated with limb and abdominal wall defects forming part of limb-body wall complex. We here present a case of a 29-week-4-day pregnancy ended with intrauterine demise. Postmortem examination revealed hiatal hernia, thoracoschisis and protrusion of some part of liver from this defect, left forearm agenesis and right arm and right hand agenesis. The findings accompanying thoracoschisis in this presented case exclude any previously reported related syndrome and we believe that this is a new syndrome.- - - - - - - - - - ranking = 0.28148919753086keywords = pregnancy (Clic here for more details about this article) |