Otocephaly, and Pulmonary Malformation Association: Two Case Reports
Overview
Affiliations
Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.
Re-focusing on Agnathia-Otocephaly complex.
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PMID: 32643087 DOI: 10.1007/s00784-020-03443-w.
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.
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