Pulmonary Agenesis Association with Nonimmune Hydrops

Abstract

Bilateral pulmonary agenesis is a rare malformation with 13 cases previously reported. To our knowledge, none of these cases have been associated with hydrops fetalis. We report a 36 weeks, hydropic female infant (46XX) with bilateral pulmonary agenesis, unilateral microophthalmia, and bilateral renal dysplasia. These eye and pulmonary findings have now been associated several times and may constitute a new syndrome. Ultrasound examination before delivery showed polyhydramnios and fetal hydrops. At autopsy the heart was structurally normal, aside from absent pulmonary connections. The ductus arteriosus was partially closed. This was felt to be etiologic in the hydrops. As the source of the amniotic fluid here could not be urine or pulmonary secretions, direct fluid transfer from fetal vasculature or skin was the likely origin.

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

“…In one case, the pulmonary artery was absent, in the other pulmonary artery branches were missing. Two other cases described previously had bilateral pulmonary agenesis associated with unilateral diaphragmatic eventration [Spear et al, 1987;Engellenner et al, 1989]. Similar facial gestalt exists in our cases, and included a high forehead, short palpebral fissures and microphthalmia, short nose with anteverted nostrils and a small chin.…”

“…A few cases have been observed in the peri-and postnatal period [Spear et al, 1987;Enns et al, 1998;Priolo et al, 2004;Li and Wei, 2006;Robert Lee et al, 2006] as well as three cases of prenatal diagnosis of the syndrome at the respective ages of 18, 22, and 36 weeks' gestation [Engellenner et al, 1989;Seller et al, 1996;Berkenstadt et al, 1999]. While most cases were apparently sporadic and isolated, MWS seems to have a genetic basis because of one report of familial recurrence [Seller et al, 1996].…”

“…Spear et al [1987] examined a patient with bilateral pulmonary agenesis, eventration of the left diaphragm, bilateral microphthalmia, and a complex cardiac defect with a ventricular septal defect and absent pulmonary vessels. Engellenner et al [1989] described another patient with bilateral pulmonary agenesis, an inverted right diaphragm, right microphthalmia and a small heart with absent pulmonary veins. Seller et al [1996] coined the term MatthewWood syndrome (MWS) in reference to an association of microphthalmia and pulmonary hypoplasia, after the name of a firstborn sib.…”

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

“…Anophthalmia and microphthalmia and diaphragmatic defects are well recognized as heterogenous malformations encountered singly or in syndromes [Ostor et al, 1978;Toriello and Bauserman, 1985;Spear et al, 1987;Seller et al, 1996;Oyamada et al, 1953;Maltz and Nadas, 1968;Bermejo and Martinez-Frias, 1998]; however, the combination of these three malformations has been described only twice previously [Spear et al, 1987;Engellenner et al, 1989].…”

A case of prenatal diagnosis of unilateral pulmonary agenesis

“…폐무발생의 예후는 사산에서 신생아 사망 또 는 아무런 증상 없이 생존하는 경우 등 매우 다양하다 [2]. 출생 후에 예 후는 다른 동반 기형의 존재에 달려 있는데, 일측성 폐무발생의 경우 반 이상에서 소화기계, 심혈관계, 골격계, 비뇨생식기계 등의 동반 기형 을 보인다 [3][4][5][6][7].…”