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Meckel Gruber syndrome
2010-04-08-11 Meckel Gruber syndrome © Cuillier
www.TheFetus.net
Meckel-Gruber syndrome
Fabrice Cuillier
, MD.
Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.
Case report
This is a case of a 30-year-old patient (G1P0) with no known obstetric risk factors and non-contributive personal or family history. The first trimester scan was not performed and the nuchal translucency was not measured.
The triple screen test was done with a risk of 1:355.
The first ultrasound scan was performed at 15 weeks of gestation in our antenatal unit.
We
found the following findings:
Occipital meningocele
Enlarged multicystic dysplastic kidneys
Polydactyly was not present
The karyotype was normal 46 XX. Patient decided for the termination of the pregnancy based on the ultrasound findings. The autopsy was performed and confirmed our prenatal findings. The final diagnosis was Meckel-Gruber syndrome.
Images 1,2
: Occipital meningocele diagnosed at 15 weeks.
Images 3,4
: Transverse view of the fetal abdomen, note the enlarged dysplastic cystic kidneys.
Images 5,6
: Both hands showing a normal count of fingers.
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Osteogenesis imperfecta -HTML
Osteogenesis imperfecta, type II-HTML
Otocephaly - Agnathia - Holoprosencephaly - Acrania-HTML
Otocephaly-agnathia-holoprosencephaly-HTML
Ovarian cyst -HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian cyst-HTML
Ovarian Cyst-HTML
Ovarian cyst-HTML
Ovarian cyst, 30-38 weeks-HTML
Ovarian cyst, bilateral, spontaneous regression-HTML
Ovarian cyst, hemorrhagic-HTML
Ovarian cyst, torsion -HTML
Ovary, cyst-HTML
Pallister Killian syndrome -HTML
Pallister Killian syndrome, 23 weeks-HTML
Pallister-Killian syndrome-HTML
Pancreatoblastoma -HTML
Partial agenesis of the corpus callosum and cleft lip-HTML
Partial anomalous pulmonary venous connection of both superior pulmonary veins into vertical vein draining into right superior vena cava-HTML
Partial Mole + Fetal Rubella-HTML
Partial mole in the second trimester-HTML
Partial trisomy 15 (q24-qter)-HTML
Parvovirus B 19-HTML
Pentalogy of Cantrell-HTML
Pentalogy of Cantrell-HTML
Pentalogy of Cantrell-HTML
Pentalogy of Cantrell-HTML
Pentalogy of Cantrell, 9 weeks-HTML
Pentalogy of Cantrell, 10 weeks -HTML
Pentalogy of Cantrell, 11 weeks -HTML
Persistent left superior vena cava-HTML
Persistent left superior vena cava-HTML
Persistent left superior vena cava-HTML
Persistent left superior vena cava-HTML
Persistent left superior vena cava-HTML
Persistent left superior vena cava causing dilatation of the coronary sinus -HTML
Persistent right umbilical vein-HTML
Persistent right umbilical vein -HTML
PHACES syndrome with cerebellar hemihypoplasia-HTML
Placental abruption in a twin pregnancy-HTML
Platyspondylic lethal skeletal dysplasia-HTML
Pleural effusion, unilateral -HTML
Polydactyly, postaxial -HTML
Polysplenia syndrome-HTML
Postaxial polydactyly-HTML
Posterior urethral valves-HTML
Posterior urethral valves-HTML
Posterior urethral valves-HTML
Posterior urethral valves with anhydramnios-HTML
Posterior urethral valves without anhydramnios, 32 weeks -HTML
Posterior urethral valves, 15 weeks -HTML
Posterior urethral valves, 15 weeks-HTML
Posterior urethral valves, 22 weeks-HTML
Posterior urethral valves, 32 weeks -HTML
Posterior urethral valves, 35 weeks -HTML
Preauricular tag-HTML
Preauricular Tags-HTML
Pregnancy in cesarean scar, four cases-HTML
Premature constriction of the ductus arteriosus-HTML
Prenatal dg by direct FISH on chorionic villi of duplic of 12 (pter-p11.21) combined with del 6(q27)-HTML
Prenatal diagnosis of fetal gallstones -HTML
Proximal femoral deficiency syndrome, bilateral-HTML
Proximal femoral hypoplasia, unilateral-HTML
Pseudo-omphalocele-HTML
Pterygium syndrome, multiple lethal -HTML
Pulmonary arterial flow mapping by STIC technique in distinguishing pulmonary atresia from type III common arterial trunk-HTML
Pulmonary atresia with ventricular septal defect-HTML
Pulmonary atresia, ventricular septal defect, hemivertebrae-HTML
Pulmonary valve atresia with intact ventricular septum,Type I-HTML
Pulmonary Valve Dysplasia-HTML
Pulmonary valve stenosis-HTML
Pulmonary valve stenosis with tricuspid regurgitation-HTML
Pulmonary valve stenosis, moderate-HTML
Pyelectasis, unilateral-HTML
Pyloric atresia -HTML
Rachischisis-HTML
Radial aplasia, bilateral, 12-21 weeks-HTML
Radial ray aplasia-HTML
Ranula-HTML
Ranula, Benign mucous cyst-HTML
Recessive kidney disease in one of the twin gestation-HTML
Recessive polycystic kidney disease-HTML
Renal agenesis without lung hypoplasia, VACTERL syndrome-HTML
Renal agenesis, bilateral -HTML
Renal tubular dysgenesis-HTML
Renal tubular dysgenesis-HTML
Retroplacental fibroid-HTML
Rhabdomyoma-HTML
Rhabdomyoma-HTML
Rhabdomyoma-HTML
Rhabdomyoma-HTML
Rhabdomyoma-HTML
Rhabdomyoma of the heart-HTML
Rhabdomyoma of the heart-HTML
Rhabdomyosarcoma of the eye-HTML
Right aortic arch-HTML
Right atrial isomerism-HTML
Right axillary lymphangioma-HTML
Roberts syndrome-HTML
Roberts syndrome-HTML
Rudimentary horn pregnancy -HTML
Sacral agenesis-HTML
Sacrococcygeal teratoma -HTML
Sacrococcygeal teratoma, 26 weeks-HTML
Sacrococcygeal teratoma, Type I -HTML
Sacrococcygeal teratoma, Type I -HTML
Sacrococcygeal teratoma, Type I-HTML
Sacrococcygeal teratoma, type I-HTML
Sacrococcygeal teratoma, Type II-HTML
Sacro-lumbar myelomeningocele-HTML
Schinzel phocomelia syndrome-HTML
Schisis-association-HTML
Schizencephaly-HTML
Schizencephaly, type II-HTML
Septal hypertrophy, diabetes-HTML
Sequestration, infradiaphragmatic-HTML
Short rib-polydactyly syndrome Type II (Majewski)-HTML
Sinus pericranii-HTML
Sirenomelia-HTML
Sirenomelia sequence-HTML
Situs invertus, abdominal-HTML
Sono AVC (Automated Volume Calculation) - interesting tool for fetal heart imaging-HTML
Sonographers Fetal Echo course 2007-HTML
Sonography of multiple gestations-HTML
Spina bifida-HTML
Spina bifida-HTML
Spina bifida aperta-HTML
Spina bifida aperta-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spina bifida, lumbar-HTML
Spleen calcifications-HTML
Spleen cyst-HTML
Split hand syndrome-HTML
Spondylocostal dysplasia (spondylothoracic dysplasia type II)-HTML
Sternum-HTML
Subamniotic bleeding and hematoma-HTML
Subependymal pseudocyst-HTML
Succenturiate placenta-HTML
Succenturiate placenta-HTML
Supraventricular tachycardia-HTML
Supraventricular tachycardia-HTML
Supraventricular tachycardia – pre-terminal recording of hemodynamics by STIC-HTML
Tail-HTML
Teratoma, neck -HTML
Teratoma, neck, with hydrops -HTML
Terms of Use-HTML
Tetrallogy of Fallot-HTML
Tetralogy of Fallot-HTML
Tetralogy of Fallot-HTML
Tetralogy of Fallot-HTML
Tetralogy of Fallot-HTML
Tetralogy of Fallot-HTML
Tetralogy of Fallot-HTML
Thalidomide embryopathy -HTML
Thanatophoric dysplasia, type I -HTML
Thanatophoric dysplasia, type I -HTML
Thanatophoric dysplasia, type I -HTML
Thanatophoric dysplasia, type I-HTML
Thanatophoric dysplasia, Type II-HTML
Thanatophoric dysplasia, type II-HTML
The Fetus On Line -HTML
The intracranial venous sinuses (upper-posterior group)-HTML
TheFetus.net community in Google+-HTML
Thoracic lymphangioma-HTML
Thoracic meningocele - 1º trimester-HTML
Thoracoomphalopagus-HTML
Toxoplasmosis fetopathy-HTML
Transient abdominal cyst-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries-HTML
Transposition of great arteries with pulmonary atresia-HTML
Transposition of the great arteries-HTML
Transposition of the great arteries, two cases-HTML
Transposition of the great arteries, ventricular septal defect, and interruption of the aortic arch-HTML
TRAP sequence, embolization-HTML
TRAP syndrome -HTML
TRAP, acardiac at 24 weeks -HTML
TRAP, acardiac, acephalus -HTML
TRAP, acardiac, acephalus-HTML
TRAP, acardiac, cephalic -HTML
TRAP, acardiac, ultrasound-guided embolization -HTML
TRAP, with rudimentary heart -HTML
Treacher Collins syndrome – role of 3D/4D ultrasound in the assessment of fetal facial dysmorphism-HTML
Tricuspid atresia-HTML
Tricuspid atresia, type I, 23 weeks-HTML
Tricuspid insufficiency and right atrioventricular hypertrophy with pulmonary atresia-HTML
Tricuspid valve dysplasia with regurgitation-HTML
Triploidy-HTML
Triploidy with hydrocephaly, first trimester-HTML
Triploidy, partial hydatiform mole-HTML
Triploidy: Partial Mole-HTML
Trisomy 13-HTML
Trisomy 13-HTML
Trisomy 13-HTML
Trisomy 13 + sacrococcygeal teratoma-HTML
Trisomy 13 with megacystis in the first trimester-HTML
Trisomy 13, two cases-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18 -HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18-HTML
Trisomy 18 , two cases-HTML
Trisomy 18, 12 weeks-HTML
Trisomy 18, 13th week-HTML
Trisomy 18, 3D rendering-HTML
Trisomy 18, bilateral radial aplasia-HTML
Trisomy 18, clenched fist-HTML
Trisomy 18, diencephalo-rhombencephalic dysplasia-HTML
Trisomy 21-HTML
Trisomy 21-HTML
Trisomy 21-HTML
Trisomy 21 - mild phenotype-HTML
Trisomy 21 - severe form, 33 weeks-HTML
Trisomy 21 (Down syndrome), first trimester, two cases-HTML
Trisomy 21 with tricuspid regurgitation-HTML
Trisomy 21, 12 weeks-HTML
Trisomy 21, 12 weeks-HTML
Trisomy 21, 12 weeks-HTML
Trisomy 21, 29 weeks-HTML
Trisomy 21, atrio-ventricular defect-HTML
Trisomy 21, atrioventricular septal defect-HTML
Trisomy 21, AVSD with Tetralogy of Fallot-HTML
Trisomy 21, cystic hygroma-HTML
Trisomy 21, from ultrasonography to chromosomal diagnosis-HTML
Trisomy 21, Tetralogy of Fallot-HTML
Trisomy 21, ventricular septal defect-HTML
Trisomy 22 mosaicism-HTML
Trisomy 22, placenta-HTML
Truncus arteriosus -HTML
Truncus arteriosus-HTML
Tubular hypoplasia of the aortic arch with critical coarctation-HTML
Tubular hypoplasia of the transverse aortic arch-HTML
Twin reversed arterial perfusion syndrome-HTML
Twinkling artifact-HTML
Twinkling artifact-HTML
Twins, conjoined-HTML
Twins, conjoined, 8 weeks -HTML
Twins, conjoined, duplicata incompleta dicephalus-HTML
Twins, conjoined, omphalopagus-HTML
Twins, conjoined, structural anomalies-HTML
Twins, conjoined, thoraco-omphalopagus-HTML
Twin-to-twin transfusion with corpus callosum lysis after co-twin death-HTML
Two- and three-dimensional sonography in early diagnosis of limb-body wall complex-HTML
Umbilical cord - velamentous insertion-HTML
Umbilical cord anomalies-HTML
Umbilical cord cyst-HTML
Umbilical cord cyst imitating omphalocele-HTML
Umbilical cord entanglement in monoamniotic twins-HTML
Umbilical cord, short umbilical cord syndrome-HTML
Umbilical vein varix-HTML
Umbilical vein varix-HTML
Unilateral acheiria-HTML
Unilateral anophthalmia and schizencephaly-HTML
Unilateral cleft lip-HTML
Unilateral cleft lip and cleft palate-HTML
Unilateral femoral hypoplasia-HTML
Unilateral femoral hypoplasia (two cases)-HTML
Unilateral multicystic dysplastic kidney -HTML
Unilateral multicystic dysplastic kidney-HTML
Unilateral renal agenesis-HTML
Ureterocele -HTML
Ureterocele-HTML
Ureterocele-HTML
Ureterocele-HTML
Ureterocele, ectopic in the proximal urethra-HTML
Ureterocele, obstructive-HTML
Urethral agenesis-HTML
Urethral atresia-HTML
Urethral meatus agenesis-HTML
Urinoma, different etiologies-HTML
Uterine dehiscence-HTML
Uterine malformations-HTML
Uterine scar dehiscence-HTML
Uterine synechia in pregnancy-HTML
VACTERL association-HTML
VACTERL association-HTML
Vallecular cyst-HTML
Vanishing twin -HTML
Vanishing twin -HTML
Varicella-HTML
Vasa praevia-HTML
Vasa previa-HTML
Vasa previa-HTML
Vasa previa-HTML
Vasa previa with bilobate placenta-HTML
Vasa previa with bilobate placenta-HTML
Vasa previa with bipartita placenta-HTML
Vein of Galen aneurysm-HTML
Vein of Galen aneurysm-HTML
Vein of Galen aneurysm-HTML
Vena cava inferior interruption, persistent right umbilical vein-HTML
Vena cava thrombosis-HTML
Venous and capillary angioma -HTML
Ventricles, inverted with transposition of the great arteries-HTML
Ventricular septal defect -HTML
Ventricular septal defect-HTML
Ventricular septal defect-HTML
Ventricular septal defect-HTML
Ventricular septal defect-HTML
Ventricular septal defect, trabecular portion-HTML
Ventricular septal defect, trabecular type-HTML
Vesicoureteral reflux - Grade V-HTML
Visceral situs inversus-HTML
Volvulus-HTML
Wolf-Hirschhorn syndrome-HTML
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