Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

Cleft lip

A gap in the lip or lips.


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PMID (PMCID)
24357076
 FEMALE Infant, Newborn
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.
Am J Med Genet A. 2014;164A(2):441-8.
Malformations such as congenital diaphragmatic hernia and cleft lip have also been described.