Familial pulmonary hypoplasia

Boylan, Peter; Howe, Anthony; Gearty, J.; O’Brien, Niall

doi:10.1007/bf03030956

Cited by 16 publications

(23 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As in the observations of Boylan et al [1] and Fraser [3], the pattern of our family suggests that some rare cases of isolated pulmonary hypoplasia may have a genetic basis: male and female patients born to healthy parents leads us to evoke autosomal recessive inheritance. On the other hand, a multifactorial aetiology or genetic heterogeneity of the disorder cannot be excluded on the basis of the small number of cases published so far.…”

Section: Discussionmentioning

confidence: 60%

“…Primary pulmonary hypoplasia is rare and the majority of cases are sporadic [5,6,8]. However, there are in addition to our cases at least three reports of this anomaly occurring in siblings: Fraser observed pulmonary hypoplasia in 2 siblings [3]; Langer and Kaufmann [5] found in their series of nine cases with isolated pulmonary hypoplasia two pairs of affected identical twins; Boylan et al [1] described a male and a female, both of them born prematurely at 33 weeks of gestation, with polyhydramnios and associated malformations (prominent epicanthic folds, 9 mild micrognathia, low set ears, one of them with an additional complete cleft palate). An older sibling had a partial defect of the right diaphragm and a rudimentary right lung.…”

Section: Discussionmentioning

confidence: 64%

“…Primary isolated bilateral pulmonary hypoplasia is rare [5,6,8], and familial occurrence exceptional [1,3,5]. We report a family with two proven and one suspected isolated pulmonary hypoplasias.…”

Section: Introductionmentioning

confidence: 91%

See 2 more Smart Citations

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

1994

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 64%

See 1 more Smart Citation

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

1994

View full text Add to dashboard Cite

show abstract

“…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.…”

Section: Discussionmentioning

confidence: 64%

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

Ruggieri

Abbate

Parano

et al. 2002

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The scimitar vein "syndrome" is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to nonconsanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins, and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though five familial cases of scimitar "syndrome" have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein "syndrome" is not a "syndrome" per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component.

show abstract

“…Primary pulmonary agenesis or hypoplasia is a rare, mostly sporadic malformation [Boylan et al, 1977;Seller et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

et al. 1999

View full text Add to dashboard Cite

We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.

show abstract

Familial pulmonary hypoplasia

Cited by 16 publications

References 3 publications

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

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

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

Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

Contact Info

Product

Resources

About