purpose: to describe the clinical findings, preoperative radiologic findings and results of surgery in a patient with congenital bilateral hypoplasia of medial rectus muscle case report: a 50-year-old man presented with large angle incomitant horizontal deviation with marked deficit of adduction of both eyes. mri finding defined very thin medial rectus muscle. intraoperatively medial rectus mus...

This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosi...

Septo-Optic Dysplasia (SOD) is a rare disorder with postulated genetic and environmental etiology. Whilst initially considered as a very rare disease (defined as incidence of approx. 1 in 50,000 births) recent data gave a reported incidence of 1 in 10,000, with equal sex distribution. The diagnosis of SOD is predominantly a clinical one, and made with the presence of two or more features of the...

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was r...

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight...

Enamel hypoplasia is an important clinical problem commonly seen in children born to diabetic women. We aimed to characterize the enamel hypoplasia in Wistar rats born to alloxan-induced diabetes mellitus rats. Groups consisted of pregnant rats supplemented (ISDR) or not (NISDR) with insulin and controls, in which sterile saline solution was administered instead of alloxan or insulin. The mandi...

A boy was born at 36 weeks' gestation weighing 2450 g. Though his Apgar score was 9 at birth, by the age of 48 hours he required artificial ventilation. He was deeply unconscious with complete lack of muscle tone, and non-ketotic hyperglycinaemia associated with secondary hypoplasia of the corpus callosum was confirmed by biochemical tests. The cranial ultrasound scan features correlated well w...

Cortisol production by the human fetal adrenal cortex has been shown to be not adequate at early gestation. This is due to an inefficient expression of 3b-hydroxysteroid dehydrogenase, the enzyme that catalyzes the synthesis of progesterone from pregnenolone, before about 23 weeks of gestation. Whereas, the fetal adrenal cortex it is able to produce dehydroepiandrosterone sulphate for placental...