Pulmonary agenesis

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 1

                      


(per page)
PMID (PMCID)
21815259
MIXED_SAMPLE Infant, Newborn
Potential teratogenic effects of allopurinol: a case report.
Kozenko M, Grynspan D, Oluyomi-Obi T, Sitar D, Elliott AM, Chodirker BN.
Am J Med Genet A. 2011;155A(9):2247-52.
The anomalies present in our patient include: diaphragmatic hernia, unilateral microtia and absence of external auditory canal, micrognathia, microphthalmia, optic nerve hypoplasia, hypoplasia of the corpus callosum, unilateral renal agenesis, pulmonary agenesis, and cleft lip and palate.