A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

The complete or partial spontaneous disappearance of a cerebral arteriovenous malformation is rare. Spontaneous thrombosis in large arteriovenous malformations has been reported in only two cases. We report the case of a large arteriovenous malformation in a 17-year-old man, that thrombosed spontaneously after minor surgical manipulation and review the literature and some possible mechanisms fo...

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the m...

Abstract Ebstein’s anomaly is a rare congenital malformation of the right ventricle and tricuspid valve which characterized by several features that can exhibit an infinite spectrum malformation. The abnormalities include: i) adherence leaflets to underlying myocardium (failure delamination); ii) anterior apical rotational displacement functional annulus (septal > posterior leaflet); iii) di...

introduction: congenital gastrointestinal (gi) malformation occurs due to mal development of gi organs. the diagnosis is based on clinical exam and radiography. the aim of this study was to determine prevalence of gastrointestinal anomalies in imam reza hospital deliveries mashhad, iran. materials and methods: in retrospective descriptive study for one year since 1.8.1391 all deliveries in our ...

chiari malformation type i (cm-i) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. the real cause behind this malformation is still unknown. patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. the objective of this case report is to give a broad perspective on...

background: spinal dural avf is the most common type of spinal vascular malformation. however, presenting symptoms differ according to site of spinal involvement. this study described a case of arteriovenous malformation with paraparesis and incontinence. case presentation: diagnosis of patient was confirmed by clinical and imaging examination using magnetic resonance image and ruling out other...

Caudal duplication (dipygus) is an uncommon pathologic of conjoined twinning. The conjoined malformation is classified according to the nature and site of the union. We report the presence of this malformation in a female crossbreed puppy. The puppy was delivered by caesarean section following a prolonged period of dystocia. External findings showed a single head (monocephalus) and a normal cra...

Typical venous malformations are easily diagnosed by skin color changes, focal edema or pain. Venous malformation in the skeletal muscles, however, has the potential to be missed because their involved sites are invisible and the disease is rare. In addition, the symptoms of intramuscular venous malformation overlaps with myofascial pain syndrome or muscle strain. Most venous malformation cases...

Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is kn...