Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance

Abstract

The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively. No other malformations were found. Histological findings suggest that the underdevelopment of the lungs has its origin at a more proximal level than the terminal bronchioles. Autosomal recessive inheritance is suggested.

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: Familial scimitar anomaly or new syndrome?

“…Familial uni-or bilateral pulmonary hypoplasia, as an isolated finding, has been observed in sibs [Boylan et al, 1977;Langer and Kaufmann, 1986;Frey et al, 1994;Hamel et al, 1995] and twins (OMIM 265430) [OMIM, 2002]. The anomalous connections of pulmonary veins, its association to pulmonary venous stenosis and the multiple congenital cardiac, and extra-cardiac defects in the present sibs suggest a complex malformation which appear to be more than a familial variant of the anomalous venous return.…”

Primary pulmonary hypoplasia: A case report and review of the literature

“…Clinically, there was uniformity between the cases. Presentation with respiratory distress within the first 5 min of birth was common 7−13 . Apgar scores were generally low 7,8,10 although some of the infants had good Apgar scores despite their respiratory disease 6 .…”

“…Presentation with respiratory distress within the first 5 min of birth was common 7−13 . Apgar scores were generally low 7,8,10 although some of the infants had good Apgar scores despite their respiratory disease 6 . All of the infants required mechanical ventilation and 100% oxygen to maintain arterial saturations 2,6−12 .…”

Familial primary pulmonary hypoplasia

“…In acute viral myositis according to our knowledge [1,[5][6][7][8][9][10][11] only 24 out of 63 and 4 out of 49 studied patients had leukocytopenia and neutropenia respectively. This difference between our results and those reported in the literature could be attributed to different causative viral strains or to a different methodology applied.…”

“…We did not study the pathogenesis of neutropenia in our pa tients. Familial primary pulmonary hypoplasia Received, accepted: 31 October 1994 Sir: With much interest we read the paper by Frey et al on familial isolated pul monary hypoplasia [1]. We know of an other family with two male siblings with this condition.…”