central nervous system infection is a rare complication of endovascular procedures. we report a 21-year-old woman presented with headache, nausea, vomiting, and right-sided hemiparesis 4 months after endovascular embolization of cerebral arteriovenous malformation. investigations led to the diagnosis of multiple brain abscesses. this is the sixth case report of brain abscess following endovascu...

Dandy-Walker malformation is a rare congenital malformation, characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation 4th ventricle and enlargement posterior fossa. Postnatal hydrocephalus develops in approximately 70-90% patients. The relationship with postaxial polydactyl has been defined as possible autosomal recessive syndrome (OMIM 220220). Here, we present an in...

Congenital cystic Adenomatoid malformation is a rare developmental abnormality of the lung occuring in 1-4/100000 live births.In most cases the outcome with CCAM in fetus is very good,while in some cases the outcome is very bad and can be life threatning for the fetus.we report here a case of 40 day old female infant who presented with worsening respiratory distress since birth and x ray and CT...

Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a va...

Results There were 32 boys and 17 girls whose ages ranged from 3 m to 12 y. The main clinical characteristics of these SRS were: i) SGA and postnatal growth retardation (mean height standard deviation score (HT SDS) was 2.25; ii) Skeletal malformation including triangular-shaped face, small chin, irregular/crowded teeth, limbs asymmetry and fifth finger clinodactyly. Genetic analysis showed tha...

Three patients with duplication of 3q regions ranging from 3q25----qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and ...

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never b...

The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype he...

Macroglossia is a morphological and volumetric alteration of the tongue, caused by muscular hypertrophy, vascular malformation, metabolic diseases, and idiopathic causes and also associated with Down and Beckwith-Wiedemann syndromes. This alteration can cause dental-muscle-skeletal deformities, orthodontic instability, masticatory problems, and alterations in the taste and speech. In this paper...

The Abernethy malformation is a rare congenital malformation defined by the presence of an extrahepatic portosystemic shunt. Although most patients are asymptomatic, clinical encephalopathy is present in 15% of cases. We present a patient with type 2 Abernethy malformation, hyperammonemia, and encephalopathy. Shunt closure was performed successfully using interventional angiography; however, hy...