Abstract
Pulmonary agenesis is an uncommon congenital anomaly resulting from failure of pulmonary development beyond the carina. Unilateral lesions constitute 70% of cases; most patients present in the neonatal period with respiratory distress. We report an infant with unilateral pulmonary agenesis and Goldenhar anomalad and review the literature to emphasize that unusually affected infants may have no initial respiratory problems but require delivery in a tertiary unit as they may require thorough investigation because associated anomalies are common. In addition, long term follow up is required.
References
1 Brimblecombe FSW: Pulmonary agenesis. Br J Tuberc45 (1951) 710.1016/S0366-0869(51)80048-0Search in Google Scholar
2 Conway K, RL Gibson, J Perkins, ML Cunningham: Pulmonary agenesis: expansion of the VCFS phenotype. Am J Med Genet113 (2002) 89Search in Google Scholar
3 Cunningham ML, N Mann: Pulmonary Agenesis: a predictor of ipsilateral malformations. Am J Med Genet70 (1997) 391Search in Google Scholar
4 Derbent M, Z Yilmaz, V Baltaci, A Saygili, B Varan, K Tokel: Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet116A (2003) 12910.1002/ajmg.a.10832Search in Google Scholar
5 Downing GJ, H Kilbride: An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar Anomolad). J Perinatol11 (1991) 190Search in Google Scholar
6 Fokstuen S, A Schinzel: Unilateral lobar pulmonary agenesis in sibs. J Med Genet37 (2000) 557Search in Google Scholar
7 Güven S, Y Koyöturk, A Cerrah Celayir, L Karadeniz, S Celikoglu: An unusual case of respiratory distress: unilateral agenesis. Arch Dis Childhood84 (2001) F19710.1136/fn.84.3.F197Search in Google Scholar
8 Mardini MK, WI Nyhan: Agenesis of the lung: report of four patients with unusual anomalies. Chest87 (1985) 522Search in Google Scholar
9 Maymon R, D Schneider, J Hegesh, A Herman, Z Weinraub, R Achiron: Antenatal sonographic findings of right pulmonary agenesis with ipsilateral microtia: a possible new laterality association. Perinatal Diagnosis21 (2001) 125Search in Google Scholar
10 Podlech J, J Richter, P Czygan, PJ Klein, H Müntefering: Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman. Pediatr Pathol Lab Med15 (1995) 781Search in Google Scholar
11 Rollnick BR, CI Kaye: Hemifacial microsomia and variants: pedigree data. Am J Med Genet15(2) (1983) 233Search in Google Scholar
12 Van Allen MI: Structural anomalies resulting from vascular disruption. Pediatr Clin North Am39 (1992) 25510.1016/S0031-3955(16)38294-3Search in Google Scholar
©2006 by Walter de Gruyter Berlin New York
