there is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. the result of karyotype showed 47xx, with extra marker chromosome 22. although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestati...

Congenital cystic adenomatoid malformation is a rare, but well-known disease. It can be managed conservatively in patients without symptoms or require surgical removal when symptomatic. The surgical option of choice is en bloc resection of the affected lesion. We report an experience of life-threatening congenital cystic adenoid malformation in a low-birth-weight (1,590 g) premature neonate who...

Isolated pulmonary vein atresia without associated congenital malformation is a very rare condition in adults. It is associated with significant mortality and morbidity. Recurrent pulmonary infections, dyspnea on exertion and hemoptysis may be the presenting complaints. Owing to the limited number of patients with this condition there may be some difficulties in it's diagnosis and therapy. We r...

Published reports and personal experience are reviewed relating to patients under 1 year of age diagnosed with a vein of Galen malformation and congenital heart disease. Including five patients from this institution, a total of 23 patients (12 neonates) with congenital heart disease and a vein of Galen malformation have been reported. Six of these had sinus venosus atrial septal defect and nine...

Background The cardiovascular magnetic resonance (CMR) is usually complements echocardiography, provides a nonionizing radiation evaluation of congenital heart disease(CHD). The congenital air way malformation occur significantly more patients with CHD than patients without CHD. Echocardiography can not show air way well and CT can show air way very well. MRI has emerged as a powerful approach ...

PURPOSE To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. Genomewide linkage analysis, fine mapping, and d...

UNLABELLED Congenital cystic adenomatoid malformation (CCAM), also named congenital pulmonary airway malformation (CPAM), is a congenital abnormality of lung which is uncommon in adults. Here we present 2 adult cases of CCAM with unusual clinical and pathologic findings. One case was complicated with aspergillosis which was seldom reported. The other case was suffered bilateral lesions and the ...

Hypoplasia of the ischiopubic region is described in four patients. An adolescent was referred for spinal dysraphism and scoliosis, another one for bilateral aplasia of the patella and scoliosis, and finally two children were treated for congenital dislocation of the hip. The osseous malformation of the ischiopubic bones was not associated with any other intrapelvic disorders, and remained unch...

Congenital cystic adenomatoid malformation (CCAM) and bronchopulmonary sequestration are congenital lung lesions. They are classified as separate entities. Each of them has distinct embryology, pathology, and natural history. However there are some commonalities between them. CCAM may have a pulmonary artery supply, or be supplied like a sequestration from the aorta, and histological features o...

The Abernethy malformation is an extremely rare congenital, extrahepatic, portosystemic shunt. There are many problems associated with this abnormal portovenous shunting and subsequent reduced hepatic portal venous flow. With the advances in non-invasive imaging technologies, these cases diagnosed more numbers; however, presentation of patients varied natural history not completely known. prese...