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Congenital diaphragmatic hernia has a mortality rate of 40–62%, [13] with outcomes being more favorable in the absence of other congenital abnormalities. Individual rates vary greatly dependent upon multiple factors: size of hernia, organs involved, additional birth defects and/or genetic problems, amount of lung growth, age and size at birth ...
Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia.A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to enter into the thoracic cavity.
Although congenital diaphragmatic hernia is a common finding in both syndromes, bilateral congenital diaphragmatic hernia had been reported only in patients with Fryns syndrome until the report of the patient with Pallister–Killian syndrome by Veldman et al. (2002). [11]
Causes of pulmonary hypoplasia include a wide variety of congenital malformations and other conditions in which pulmonary hypoplasia is a complication. [1] These include congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, fetal hydronephrosis, caudal regression syndrome, mediastinal tumor, and sacrococcygeal teratoma with a large component inside the fetus.
Chung's areas of expertise include newborn screening, rare genetic neurodevelopment disorders, autism, clinical genetics, developmental disorder, precision medicine, congenital anomaliess, breast cancer, cancer genetics, cardiomyopathy, esophageal atresia/tracheo esophageal atresia, congenital diaphragmatic hernia, congenital heart disease ...
Features secondary to VACTERL components are frequent enough to be considered an extension of VACTERL. These include: single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, intestinal and respiratory anomalies, and oligohydramnios sequence defects. [4] [8] Cardiac defects are thought to fit in this category. [4]
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Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
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