Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome

Koenraad Smets; Geert Mortier; Aleksandra Zecic

doi:10.1038/sj.jp.7211384

Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome

J Perinatol. 2005 Nov;25(11):745-6. doi: 10.1038/sj.jp.7211384.

Authors

Koenraad Smets¹, Geert Mortier, Aleksandra Zecic

Affiliation

¹ Neonatal Intensive Care Unit, Ghent University Hospital, Gent, Belgium.

PMID: 16252013
DOI: 10.1038/sj.jp.7211384

Abstract

Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt-Oram syndrome.

Journal of Perinatology (2005) 25, 745-746. doi:10.1038/sj.jp.7211384.

Publication types

Case Reports

MeSH terms

Cardiomegaly / complications
Carpal Bones / abnormalities
Finger Phalanges / abnormalities
Hand Bones / abnormalities*
Heart Defects, Congenital / complications*
Heart Defects, Congenital / genetics
Humans
Infant, Newborn
Lung / abnormalities
Radius / abnormalities*
Respiration, Artificial
Respiratory Insufficiency / etiology*
Respiratory Insufficiency / genetics
Syndrome
T-Box Domain Proteins / genetics

Substances

T-Box Domain Proteins
T-box transcription factor 5