Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Journal of Pediatrics

Volumn 170, Issue , 2016, Pages 317-318

  Prothro, Stephanie L ^a   Plosa, Erin ^a   Markham, Melinda ^a   Szafranski, Przemyslaw ^b   Stankiewicz, Pawel ^b   Killen, Stacy A S ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEIN; AORTA VALVE DISEASE; ARTERY DYSPLASIA; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; ATRIOVENTRICULAR VALVE INSUFFICIENCY; CASE REPORT; CAVA VEIN DISEASE; CHORION VILLUS SAMPLING; COMPASSIONATE USE; FEMALE; FETUS ECHOGRAPHY; FOXF1 GENE; GENE DELETION; HEART ATRIUM SEPTUM DEFECT; HIGH FREQUENCY VENTILATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTESTINE ATRESIA; LUNG DYSPLASIA; MUTATOR GENE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NITRIC OXIDE DELIVERY APPARATUS; PATIENT COMFORT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PULMONARY VEIN MALFORMATION; VALVULAR HEART DISEASE; ABNORMALITIES; ADULT; FATALITY; GENETIC MARKER; GENETICS; LUNG ALVEOLUS; PERSISTENT FETAL CIRCULATION SYNDROME; PREGNANCY; PULMONARY VEIN;

FORKHEAD TRANSCRIPTION FACTOR; FOXF1 PROTEIN, HUMAN; GENETIC MARKER;

ADULT; CHORIONIC VILLI SAMPLING; FATAL OUTCOME; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENETIC MARKERS; HUMANS; PERSISTENT FETAL CIRCULATION SYNDROME; PREGNANCY; PULMONARY ALVEOLI; PULMONARY VEINS;

EID: 84960441467     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2015.11.041     Document Type: Article

References (10)

1. C.G. Janney, F.B. Askin, and C. Kuhn III Congenital alveolar capillary dysplasia - an unusual cause of respiratory distress in the newborn Am J Clin Pathol 76 1981 722 727
2. N.B. Bishop, P. Stankiewicz, and R.H. Steinhorn Alveolar capillary dysplasia Am J Respir Crit Care Med 184 2011 172 179
3. J.R. Lane, E. Siwik, T. Preminger, E. Stork, and M. Spector Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease Am J Cardiol 84 1999 618 620 A9-10
4. P. Sen, Y. Yang, C. Navarro, I. Silva, P. Szafranski, K.E. Kolodziejska, and et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain Hum Mutat 34 2013 801 811
5. P. Szafranski, A.V. Dharmadhikari, E. Brosens, P. Gurha, K.E. Kolodziejska, O. Zhishuo, and et al. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder Genome Res 23 2013 23 33
6. T. Parris, A.M. Nik, S. Kotecha, C. Langston, K. Helou, C. Platt, and et al. Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins Am J Med Genet Part A 161A 2013 764 770
7. M.J. Garabedian, D. Wallerstein, N. Medina, J. Byrne, and R.J. Wallerstein Prenatal diagnosis of cystic hygroma related to a deletion of 16q24.1 with haploinsufficiency of FOXF1 and FOXC2 genes Case Rep Genet 2012 2012 490408
8. D. Laux, V. Malan, F. Bajolle, Y. Boudjemline, J. Amiel, and D. Bonnet FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease Cardiol Young 23 2013 697 704
9. V.A. del Val, A. Avila-Alvarez, L.R. Schteffer, F. Santos, L. Deiros, and M.J. Del Cerro Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation J Perinatol 34 2014 795 797
10. P. Sen, N. Thakur, D.W. Stockton, C. Langston, and B.A. Bejjani Expanding the phenotype of alveolar capillary dysplasia (ACD) J Pediatr 145 2004 646 651