In 1963 Rubinstein and Taybi described a new syndrome characterized by broad thumbs and toes, facial abnormalities and mental retardation. The syndrome can be observed in the neonatal period by typical thumbs, halluces and facial abnormalities. The prevalence in the general population is unknown, however the disorder is not rare and is present in about 1:600 patients in mental retardation clini...

BACKGROUND Painless legs and moving toes syndrome is a very rare syndrome characterized by continuous and involuntary movement of the toes. The etiology of the disease is not clear though it has been linked to a wide range of neuronal insults including proximal root compression and neuropathy. A previous study has reported bilateral painful legs and moving toes syndrome in a patient with a sacr...

Agenesis of corpus callosum is a common congenital or developmental malformation of brain. This is a case report of 13 year old female presented with delayed milestones, mental retardation, refractory hypertension and pallor since childhood. She had dysmorphic facies in the form of thick eyebrows, hypertelorism, low anterior hairline, hirsuitism, broad nose, thickened lips and low set ears. Upp...

Rubinstein-Taybi syndrome (RTS) is a human genetic disorder characterized by mental retardation and physical abnormalities including broad thumbs, big and broad toes, short stature, and craniofacial anomalies. The oral manifestations include small oral opening, pouting lower lip, retro/micrognathia. and higher arched, narrow palate. The purpose of this case report was to demonstrate the complic...

Determination of drug residues in food is of great importance due to their toxicity. Long-term exposure with low level of drug residues could be important, especially in children. Based on document study, oxytetracycline (OTC) is a prophylaxis and treatment agent for great number of diseases and possesses a broad spectrum activity against many pathogenic organisms and can be toxic or cause alle...

We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [c...

Successful fetoscopy using a 9 mm laparoscope was carried out on an 18-week pregnancy of a healthy woman who had had two previous male infants with bilateral double big toes, bilateral ulnar supernumerary digits associated with short segment Hirschsprung's disease, and ventricular septal defect of the heart, a syndrome apparently not previously described. The fetus was found to be normal, but a...

Painless legs and moving toes is an unusual syndrome, which has not previously been reported as an initial presentation of ischemic stroke. We encountered a 78-year-old woman who developed dysarthria and involuntary movement of her left toes that was clinically regarded as painless legs and moving toes. These symptoms appeared abruptly and simultaneously as the initial symptoms of stroke, and i...