Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure to delineate the midline in these structures. Despite the identification of several HPE genes, its genetic basis is largely unknown. Furthermore, the phenotype of affected individuals is highly variable, even within pedigrees. Facial defects in HPE range from cyclopia and proboscis...

BACKGROUND The purpose of this study was to examine a human fetus with combined holoprosencephaly and cyclopia by means of histology and 3-D reconstruction to determine the internal structure and extent of the malformation. METHODS The head from a human fetus at 20 weeks gestation and a diagnosis of holoprosencephaly and cyclopia was investigated histologically and three-dimensionally reconst...

introduction: otosclerosis is a disease of bony labyrinth. structural changes in the labyrinth often cause ossicular fixation, and thus conductive hearing loss. the purpose of this study was to evaluate middle ear exploration findings and frequency of ossicular and footplate area anomalies in patients with suspected otosclerosis referred to amiralmomenin and golsar hospitals in rasht, iran.   m...

Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...

With the use of high-resolution MR imaging techniques, we have increasingly observed anomalies of the hypothalamus characterized by a band of tissue spanning the third ventricle between the hypothalami, often without associated clinical sequelae. Historically, hypothalamic anomalies are highly associated with symptoms referable to a hypothalamic hamartoma, midline congenital disorder, hypothala...

Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Her...

Thyroglossal duct cysts are one of the most common cervical congenital anomalies. They occur along thyroid migration tract, which extends from base tongue through midline neck to level cricoid cartilage. present as a mass and closely associated with hyoid bone. Here, we describe case where two cystic structures were found just inferior gland bone, suggesting double thyroglossal cyst. It is impo...

The anatomy of the first vertebra, namely atlas, has significant clinical implications. Atlas is situated between occipital bone and second cervical vertebra (axis) one main points head movement. Most congenital anomalies are diagnosed incidentally during imaging investigations can be associated with spine anomalies. neurological symptoms may include weakness in four limbs, acute neurologic def...

We report a case of far-advanced hepatocellular carcinoma (HCC) with situs ambiguous, complex visceral and vascular anomalies, who was successfully managed by extended hemi-hepatectomy. A 67-year-old man was referred to our hospital with a large liver mass. Abdominal ultrasonography, computed tomography and angiography revealed HCC with a diameter of 10 cm, with tumor thrombus in the main and f...