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The diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement (i.e. elevation) of part or all of an otherwise intact diaphragm into the chest cavity. This rare type of CDH occurs because in the region of eventration the diaphragm is thinner, allowing the abdominal viscera to protrude upwards.
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.
In their research, the couple discovered Dr. David William Kays, the medical director of the Center for Congenital Diaphragmatic Hernia (CDH) at Johns Hopkins All Children's Hospital.
Differential Diagnosis: McPherson et al. (1993) noted the phenotypic overlap between Fryns syndrome and the Pallister–Killian syndrome (601803), which is a dysmorphic syndrome with tissue-specific mosaicism of tetrasomy 12p .
Congenital diaphragmatic hernia (CDH), in this case, the upward displacement of the diaphragm and abdominal organs, is a possible clinical outcome detectable before birth. [7] The displacement is caused by organ herniation occupying the empty space in the chest wall, while this space is created by the absence of lung tissue. [ 7 ]
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Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
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