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.

Ectropion

An outward turning (eversion) or rotation of the eyelid margin.


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PMID (PMCID)
26049589
 MALE
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
McVeigh TP, Banka S, Reardon W.
Clin Dysmorphol. 2015;24(4):135-9.
We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion.