Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition w...

Quadricuspid aortic valve is a rare congenital malformation of the aortic valve. Even in the era of a transthoracic and transesophageal ultrasound the occurrence is sometimes missed. Aortic incompetence occurs usually in 5th or 6th decade of life requiring surgical intervention. We report on a 70-year-old woman who presented with exertional dyspnea. In a diagnostic setting transthoracic ultraso...

NOMALOUS inferior vena cava with azygos or hemiazygos continuation has been considered to be a very rare anomaly in the past. However, since the development of cardiac catheterization and angiocardiography, this congenital abnormality has been reported with increasing frequency. This anomaly is usually associated with other cardiovascular defect, and there are few reported cases without other m...

This rare congenital malformation is a round or oval opening between the ascending aorta and the main pulmonary artery above the semilunar valves. It is practically impossible to differentiate this malformation from a patent ductus arteriosus clinically because both malformations may present the same physical, fluoroscopic, roentgen and electrocardiographic findings. Even angiocardiography and ...

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of co...

Congenital cystic adenomatoid malformation of the lung is rare in adults. We present a 51-year-old man with recurrent lower respiratory tract infections and intermittent febrile episodes for more than 10 years. Multiple cavitary lesions with fluid accumulation were seen in the right lower lobe of the lung on radiography and computed tomography of the chest. Wedge resection of the right lower lo...

SIR—Treacher Collins or Francescetti syndrome or Mandibulofacial Dysostosis is a congenital malformation of craniofacial development. He is characterized by hypoplasia of malar bones, palpebral fissure sloping downward and laterally with coloboma of the lower eyelids, micrognathia, malformation of external, middle and inner ear and cleft palate. In these patients conventional direct laryngoscop...

Cervical abnormalities may be congenital or acquired. Congenital anomalies of the cervix are rarely isolated, and more commonly accompany other uterine anomalies. Various imaging tools have been used in the assessment of Mullerian duct anomalies (MDAs). Currently, magnetic resonance imaging (MRI) is the modality of choice for definitive diagnosis and classification of the MDAs. Hysterosalpingog...

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...

Congenital cystic adenomatoid malformation (CCAM) is a rare bronchopulmonary malformation characterized by loss of the normal pulmonary tissue. CCAM may be frequently associated with cardiac and renal anomalies. Rarely, CCAM may be seen with chromosome abnormalities. This is the first reported neonatal case of prenatally detected CCAM and postnatally diagnosed trisomy 13.