Bilateral pulmonary agenesis and microphthalmia

Spear, Gerald S.; Yetur, Praveena; Beyerlein, Richard A.; Opitz, John M.; Bernstein, Jay

doi:10.1002/ajmg.1320280543

Cited by 26 publications

(36 citation statements)

References 7 publications

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“…The combination of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients [Engellenner et al, 1989;Spear et al, 1987]. The main clinical signs in these cases in comparison with our case are presented in Table I.…”

Section: Discussionsupporting

confidence: 72%

“…The fact that pulmonary agenesis, microphthalmia, and diaphragmatic defect all may be an expression of a developmental disruption at approximately the fourth week of gestation is in favor of the association concept [Spear et al, 1987;Pansley, 1982]. The malformations in our case are all on the right side of the body and this is also in favor of that concept.…”

Section: Discussionmentioning

confidence: 47%

“…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].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 1999

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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.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 47%

Section: Introductionmentioning

confidence: 99%

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

et al. 1999

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“…Variable combinations of microphthalmia/anophthalmia, pulmonary agenesis/dysplasia, diaphragmatic hernia and malformative cardiac defects have been infrequently reported over the last three decades (Ostor et al, 1978;Spear et al, 1987;Smith et al, 1994;Seller et al, 1996;Berkenstadt et al, 1999;Priolo et al, 2004;Lee et al, 2006;Li and Wei, 2006;Chitayat et al, 2007;Golzio et al, 2007;Pasutto et al, 2007). Such associations have been called Matthew-Wood or Spear syndrome, while Chitayat et al (2007) devised the acronym PDAC (Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia and Cardiac Defect), and the Mendelian Inheritance in Man database has adopted the term MCOPS9 for "syndromic microphthalmia 9" (MIM# 601186).…”

Section: Introductionmentioning

confidence: 99%

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

et al. 2009

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Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described.

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“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Martinovic-Bouriel

Bernabé-Dupont

Golzio

et al. 2007

American J of Med Genetics Pt A

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We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations.

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Bilateral pulmonary agenesis and microphthalmia

Cited by 26 publications

References 7 publications

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

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

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

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

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