A 66-year-old male patient was admitted in our outside hospital’s emergency room after 4 days of epigastric pain, nausea and vomiting. No fever, dysthermia or respiratory symptoms were related. The pain irradiated to right hypochondria and even to right chest. Laboratory tests showed slight elevation of liver enzymes and leukocytosis. Abdominal CT revealed hepatodiaphragmatic colonic interposit...

[Purpose] The purpose of this study was to measure the muscle activities of the trunk muscles and upper limb muscles during maximum isometric contraction when temporomandibular joint alignment was achieved with a mandibular orthopedic repositioning appliance in order provide basic data on the effects of mandibular orthopedic repositioning appliance on the entire body. [Subjects] The present stu...

INTRODUCTION Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritanc...

the robert/sc (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. an anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. ultrasonographic finding...

Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and ...

BACKGROUND AND PURPOSE Recent work has shown that up to 50% of patients with congenital muscular dystrophies (CMDs) have abnormalities of the brain that can be detected by brain MR imaging. We attempted to determine whether brain MR imaging is useful for the diagnosis and classification of patients with CMDs. METHODS The brain MR studies of 12 patients with biopsy-proved CMDs were reviewed re...

The American Academy of Sleep Medicine (AASM) defines sleep bruxism as a stereotyped movement disorder characterized by clenching and grinding of the teeth during sleep. Bruxism is found in 14%-20% of children, 8% of adults <60 years old, and 3% of adults >60 years old. The mandibular movements of bruxism can be confused with rhythmic mandibular movements associated with other sleep disorders, ...

We report on five sibs affected by congenital microcephaly, growth retardation, sloping forehead, bitemporal grooving and micrognathia. Generalized tonic-clonic seizures started very early in life. Postnatal brain computerized tomography (CT) presented cortical band-like calcification, calcification of basal ganglia and brain stem while brain magnetic resonance imaging (MRI) revealed abnormal g...

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A fun...

SUMMARY Holt Oram Syndrome consisting of upper limb defcts, cardiac anomalies and narrow shoulder, was first described by Holt and Oram in 1960. The inheritance pattern is autosomal dominant and most commonly encoutered cardiac anomalies being ASD, although all variaties of C.H.D are reported. Upper limb anomalies are not specific, although scaphoid bone deformity is almost characteristic in t...