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Background  Persistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the newborn are rare. The  TWIST1  gene is involved in morphogenetics, and deletions are known to cause Saethre-Chotzen syndrome. Deletions of  PHF14  have never been reported in neonates, but animal studies have shown a link between severe defects in lung development and deletions of this gene. There have not, to the best of our knowledge, been any publications of a link between the genes  TWIST1  and  PHF14  and persistent pulmonary hypertension of the newborn, making this a novel finding.    Case presentation  We describe a white male neonate born at term to non-consanguineous white parents; he presented with dysmorphic features and a therapy-refractory persistent pulmonary hypertension. Array-based comparative genomic hybridization revealed the presence of a 14.7 Mb interstitial deletion on chromosome 7, encompassing the genes  TWIST1  and  PHF14 .    Conclusions  The  TWIST1  gene can explain our patient’s dysmorphic features. His severe persistent pulmonary hypertension has, however, not been described before in conjunction with the  TWIST1  gene, but could be explained by involvement of  PHF14 , consistent with findings in animal experiments showing lethal respiratory failure with depletion of  PHF14 . These findings are novel and of importance for the clinical management and diagnostic workup of neonates with severe persistent pulmonary hypertension of the newborn and dysmorphic features.

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report