Balanced and unbalanced pericentric inversion of chromosome 11.
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Abnormalities, Multiple↗
Biomedical subjects
M Haspeslagh
Publications and source records attributed to M Haspeslagh.
Perinatal mortality and XY/XX mosaicism. Report of two patients.
An XX/XY mosaicism was detected in two phenotypically male newborns with perinatal death, The importance of chromosome studies at the paediatric necropsy and the significance of the present findings are discussed.
Asphyxia Neonatorum↗
Fibrolamellar hepatocellular carcinoma in a 65-year-old woman: CT features.
A 65-year old woman with recurrent deep vein thrombosis underwent a CT scan of the upper abdomen for detection of underlying malignancy. A fibrolamellar hepatocellular carcinoma with extrahepatic subdiaphragmatic satellite lesion was found. This uncommon tumor has distinct clinical, pathological, radiological and prognostic features and therefore it is important to distinguish it from benign liver tumors, especially FNH, and from other malignant liver tumors such as conventional HCC. Though the tumor characteristically occurs in younger patients, our case proves that older patients can also be affected.
Aged↗
Jaw fixation as the key to diagnosis of fibrodysplasia ossificans progressiva.
Fibrodysplasia ossificans progressiva is a very rare and disabling hereditary disorder of connective tissue characterised by symmetric congenital anomalies of the great toes and thumbs and by progressive heterotopic ossification of tendons, ligaments, fasciae and striated muscles. In this case we report a 17-year-old boy who presented with a painful swelling of the right mandibula with trismus. Multiple heterotopic soft tissue calcifications, severe scoliosis and typical anomalies of toes and thumbs on the radiographs were pathognomonic for fibrodysplasia ossificans progressiva.
Adolescent↗
Caudal regression anomalad.
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Abnormalities, Multiple↗