Pancake kidney results from failure of the kidneys to ascend, which may lead to fusion of the two renal masses. Reviewing the literature, this is the first case of antenatal diagnosis from India. No other associated extrarenal abnormalities were found. Postnatal follow up was also performed which confirmed the antenatal diagnosis.
We report a case of a pregnancy involving a fetal neck mass which was diagnosed at 19 weeks of gestation. Three dimensional ultrasound provided detailed additional information about the extent of the lesion and the areas of involvement. Color Doppler revealed intense vascularity within the lesion, with both arterial and venous flow. Fetal MRI revealed the exact extent of the lesion along with deep seated structures involved. Diffusion weighted images revealed restricted diffusion with low ADC values suggesting a mitotic etiology. The patient along with her husband decided to abort the fetus. An infantogram of the abortus was taken. Histopathology and immunohistochemistry was performed. The final diagnosis was immature teratoma.
Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon congenital/pediatric disorder diagnosed only with the help of imaging. Clinical features associated with it are hemiparesis, seizures, facial asymmetry, and mental retardation. We here present a case of DDMS diagnosed antenatally at 29 weeks gestational age during routine antenatal ultrasound examination. The patient was further evaluated and followed using both ultrasound and magnetic resonance imaging during antenatal and postnatal periods. The infant had unilateral hemiatrophy with the absence of anterior and middle cerebral arteries. We hereby also want to coin the term "shifted falx sign" as a diagnostic indicator for DDMS for the first time. To our knowledge, this is the earliest antenatally sonologically diagnosed case of the said pathology.
Hydroxyapatite deposition disease (HADD) can affect any location of the body and present with a variety of clinical symptoms. Here, we describe three unusual sites of involvement of HADD around the hip as well as the wrist joint. Magnetic resonance imaging along with computed tomography correlation was performed in these cases, which demonstrated the calcific deposits as well as their associated soft-tissue inflammatory changes. Its imaging findings can look very aggressive and empowering, similar to infection or even malignancy. This makes this entity a great mimicker. Through these cases, we emphasize the need to think about HADD in places other than the classical shoulder girdle and always keep it on the differential list.
We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings. The antenatal findings were confirmed clinically as well as with a postnatal follow-up X-Ray (infantogram) of the baby. Trio whole-exome sequencing was performed for the child as well as both the parents, which did not reveal any clinically significant variant that could explain the patient’s phenotype.
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