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License: http://creativecommons.org/licenses/by/2.1/jp/
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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.

Micromelia

The presence of abnormally small extremities.

Total: 2

(per page)

PMID (PMCID)
20812182	FEMALE	Adult
	First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities.
	Mourali M, El Fekih C, Dimassi K, Fatnassi A, Zineb NB, Oueslati B. Tunis Med. 2010;88(9):666-9.
	The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia (CDH) and a micromelia of a rhizomelic type.
12116305	FEMALE	Adult
	Pallister-Killian syndrome: difficulties of prenatal diagnosis.
	Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, De Geeter B, Spizzo M, Zeidan C, Flori E. Prenat Diagn. 2002;22(6):470-7.
	Although ultrasound anomalies such as congenital diaphragmatic hernia, polyhydramnios and rhizomelic micromelia in association with fetal overgrowth are very suggestive of the syndrome, they are inconstant and they may even be absent.