Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

(Abstracted from Prenatal Diagnosis 2021;41:283–300) Myelomeningocele (MMC) is a congenital malformation of the central nervous system that caused by an incomplete closure neural tube during third to fourth week embryonic development. An MMC can be seen in some cases prenatal ultrasound first trimester, although most are diagnosed second trimester.

Congenital cystic adenomatoid malformation (CCAM) occurs secondary to the cystic adenomatous over-growth of terminal bronchioles, which results in the secondary inhibition of alveolar growth. In most of the cases, respiratory distress is the presenting feature during the neonatal period. In about 90% of patients, recurrent respiratory infections necessitating chest imaging reveal CCAM before th...

Congenital cystic adenomatoid malformation of the lung is a developmental abnormality characterized by abnormal proliferation of terminal bronchioles forming cysts of varying sizes. Extensive lesions are associated with a poor prognosis due to the development of nonimmune hydrops and/or pulmonary hypoplasia. The advent of high-resolution ultrasonography has made it possible to identify these le...

Rare liver diseases caused by ductal plate malformation, such as congenital hepatic fibrosis (CHF), Caroli syndrome, and polycystic disease, can have clinical manifestations recurrent cholangitis—frequently involving multidrug-resistant microorganisms—leading to difficulties in selecting the optimal antimicrobial treatment. Without prompt recognition, these infections severely hamper patient’s ...

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...