منابع مشابه
Antenatal diagnosis of seckel syndrome.
Evaluation of the fetus in a 29-year-old primigravida showed severe intrauterine growth restriction with complex brain malformation with fetal dysmorphology. The family and past obstetric history is unremarkable, with nonconsanguineous marriage. Her previous scans included one at 12 weeks for nuchal translucency, and another an anomaly scan at 19 weeks, which both were unremarkable. In late sec...
متن کاملA rare case of Meckel-Gruber syndrome: Antenatal diagnosis
Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive condition which is rarely reported. Polycystic kidneys, polydactyly, occipital encephalocele are the diagnostic triad for MGS. 24 year old G2P1L1 having a consanguineous marriage at 20 weeks of gestation on detailed level II anomaly scan showed bilateral enlarged polycystic kidneys with increased echogenicity, absent urinary bladder, ...
متن کاملMeckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.
Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.
متن کاملAntenatal diagnosis of achondroplasia
We report a interesting case of antenatal diagnosis of achondrpoplasia in a young multigravida who presented with term pregnancy for routine ultrasound assessment which revealed a single, live intrauterine fetus with a discrepancy between femur length (FL) and biparietal diameter (BPD), narrowing of the interpeduncular distance. The diagnosis of achondroplasia was made with a sonological skelet...
متن کاملAnesthetic consideration in downs syndrome--a review.
Downs syndrome constitutes to be the most common chromosomal disorder. Patients with Downs's syndrome are posted for several surgeries including dental procedures and even for facial reconstruction. They are associated with several congenital anomalies in different organ system. There is also increased incidence of atlanto axial instability and risk of spinal cord injury. These children are sus...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMJ
سال: 1993
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.306.6880.791-d