Isolated Pierre Robin sequence (PRS) is characterized by underdeveloped jaw, backward displacement of the tongue and upper airway obstruction with or without cleft palate be part a known syndrome as VACTREL CHARGE, associated other malformations congenital heart disease, lung malformations, musculoskeletal system anomalies, hereditary progressive arthro-ophthalmopathy. We report neonate PRS who...

Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS characterized by the presence of hypothyroid goiter combined with mild to moderate form SNHL, not presentable at birth, no obvious inner ear malformation. This major difference from Pendred in which SNHL congenital, severe profound nature, and associated malformation, mostly enlarge...

Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and prim...

Patients with congenital lung cysts are at increased risk of developing carcinoma, but the mechanisms concerned are not clear. The case of a young adult who developed a bronchioloalveolar carcinoma associated with a cystic congenital adenomatoid malformation is reported. The adjacent lung showed an unusual intra-alveolar hyperplasia of mucous cells. Two further cases of congenital adenomatoid m...

There have been amazing advances in embryology, teratology, reproductive biology, genetics, andepidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive 434SURAKSHA AGRAWAL Author’s Address: Prof. Suraksha Agrawal, Dep...

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 ...