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Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.
BMC Pregnancy Childbirth
June 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital, Beijing, China.
Article Synopsis
- - Frontonasal dysplasia (FND) is a rare congenital condition characterized by facial anomalies, such as a deformed nose and wide-set eyes (ocular hypertelorism), and can be associated with other issues like cleft lip/palate.
- - A 33-year-old pregnant woman was diagnosed at 20 weeks with FND and additional complications, including limb anomalies and brain underdevelopment, using 3D ultrasound; despite extensive genetic testing, no new gene variants were identified.
- - This case highlights the spectrum of FND and demonstrates that 3D ultrasound is effective in identifying associated deformities during prenatal assessments.
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.
Prenat Diagn
November 2009
Department of Clinical Genetics, University Hospital, Lille, France.
Tetrada of the possible mycophenolate mofetil embryopathy: a review.
Reprod Toxicol
July 2009
Beilinson Teratology Information Service, Petah Tiqwa, Israel.
Mycophenolate mofetil (MFM) is an immunosuppressant agent used in organ transplantation, rheumatoid arthritis and lupus nephritis. Experimental data show that doses roughly equivalent to those used clinically in transplant patients may cause fetal resorption and malformations in pregnant rats and rabbits. There are limited data regarding the use of MFM in pregnant women.
View Article and Find Full Text PDFReviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
Am J Med Genet A
June 2009
Massachusetts Department of Public Health, Massachusetts Center for Birth Defects Research and Prevention, Boston, MA 02108, USA.
Mycophenolate mofetil (MMF) (CellCept) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and review the other 13 reports.
View Article and Find Full Text PDFIntrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect.
Am J Med Genet A
June 2009
Center for Fetal and Neonatal Medicine, USC Division of Neonatal Medicine, Department of Pediatrics, Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA.
There is very little data linking the use of immunomodulating agents following solid organ transplantation in pregnant women with specific congenital anomalies in the offspring. Here we report on a late preterm infant with multiple, nonsyndromic, congenital anomalies including microtia/anotia, cleft lip and palate, micrognathia, ocular hypertelorism, microphthalmia and cataracts, complex congenital heart disease, rib anomalies, and intestinal malrotation. The similarity of the complex anomalies in our case to other reported cases suggests that the abnormalities are likely due to mycophenolate mofetil alone or in combination with other immunosuppressive medications taken by the mother during pregnancy.
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