Familial primary pulmonary hypoplasia

Hamel, B.C.J.

doi:10.1007/bf01957378

Cited by 9 publications

(18 citation statements)

References 2 publications

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“…The child may present with respiratory distress at birth or a reduced Apgar score requiring mechanical ventilation but babies with normal Apgar scores have also been seen 13 14. As with our patient, some of the patients have a silent childhood, the disease being manifested only at adulthood 6…”

Section: Discussionmentioning

confidence: 50%

Unilateral pulmonary hypoplasia: a rare clinical presentation

Pathania¹,

Lali

Rathaur³

2013

BMJ Case Reports

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The clinical presentation of an adolescent man with left lung hypoplasia is described in detail including the history and clinical examination findings. On further investigation, the chest x-ray and CT scan of the chest reveal interesting findings. Generally, such conditions are brought to notice in the early years of life but the presentation of this condition at the age of 18 years make it even more interesting and unique. This is a discussion of the management of such a patient and the different types of lung hypoplasia which can be encountered in clinical practice.

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Section: Discussionmentioning

confidence: 50%

Unilateral pulmonary hypoplasia: a rare clinical presentation

Pathania¹,

Lali

Rathaur³

2013

BMJ Case Reports

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“…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

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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.

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“…Primary pulmonary hypoplasia is a rare condition confined to single case reports or small case series (Table 1). 2,[6][7][8][9][10][11][12][13] This review concerns the clinical presentation, radiological and pathological features and examines the prognosis of this condition.…”

Section: Discussionmentioning

confidence: 99%

“…Presentation with respiratory distress within the first 5 min of birth was common. [7][8][9][10][11][12][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.…”

Section: Discussionmentioning

confidence: 99%