Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways
نویسندگان
چکیده
This report presents a rare example of a bilateral congenital anophthalmos and an agenesis of the optic pathways. The MR imaging studies revealed that the eyeballs, optic nerves, optic chiasm, optic tracts and optic radiation were absent. The chromosomal examination was normal. Mild mental retardation was also observed. Apart from the rarity of the anophthalmos and the total absence of the optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.
منابع مشابه
Imaging findings in patients with clinical anophthalmos.
PURPOSE To review the intracranial and facial imaging features in children with congenital anophthalmos. METHODS We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain). RESULTS Three patients had...
متن کاملA Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome
The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/ agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect). We report a sporadic case of female infant with the combination of bilateral microphthalmia, unilateral right ...
متن کاملA Case of Bilateral Agenesis of the Femur
Bilateral femoral agenesis is a rare anomaly. To the best of our knowledge, only three cases of simple congenital anomaly and three cases associated with femoral facial syndrome have been reported. Here, we describe a simple form of bilateral femoral agenesis observed in one of the 2 dead fetuses delivered after termination of a 24-week twin pregnancy of a normal mother. Post-mortem x-ray ex...
متن کاملSuprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome
A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal labo...
متن کاملCongenital lumbar vertebrae agenesis in a lamb
Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopi...
متن کامل