Pulmonary agenesis

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


Total: 10

                       


(per page)
PMID (PMCID)
28398665
 MIXED_SAMPLE Infant
Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.
Sadowski S, Chassaing N, Gaj Z, Czichos E, Wilczynski J, Nowakowska D.
Birth Defects Res. 2017;109(4):251-253.
It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects.
21815259
 MIXED_SAMPLE Infant, Newborn
Potential teratogenic effects of allopurinol: a case report.
Kozenko M, Grynspan D, Oluyomi-Obi T, Sitar D, Elliott AM, Chodirker BN.
Am J Med Genet A. 2011;155A(9):2247-52.
The anomalies present in our patient include: diaphragmatic hernia, unilateral microtia and absence of external auditory canal, micrognathia, microphthalmia, optic nerve hypoplasia, hypoplasia of the corpus callosum, unilateral renal agenesis, pulmonary agenesis, and cleft lip and palate.
17236193
 MIXED_SAMPLE Adult
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabe-Dupont C, Golzio C, Grattagliano-Bessieres B, Malan V, Bonniere M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attie-Bitach T, Encha-Razavi F, Benachi A.
Am J Med Genet A. 2007;143A(3):219-28.
We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect.
17236193
 MIXED_SAMPLE Adult
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabe-Dupont C, Golzio C, Grattagliano-Bessieres B, Malan V, Bonniere M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attie-Bitach T, Encha-Razavi F, Benachi A.
Am J Med Genet A. 2007;143A(3):219-28.
This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect).
17506106
 MIXED_SAMPLE Infant, Newborn
The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Benejean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P.
Am J Med Genet A. 2007;143A(12):1268-81.
The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996].
15127767
 MALE Infant, Newborn
Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case.
Priolo M, Casile G, Lagana C.
Clin Dysmorphol. 2004;13(1):45-6.
Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case.
10440821
 FEMALE Adult
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?
Berkenstadt M, Lev D, Achiron R, Rosner M, Barkai G.
Am J Med Genet. 1999;86(1):6-8.
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.
10440821
 FEMALE Adult
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?
Berkenstadt M, Lev D, Achiron R, Rosner M, Barkai G.
Am J Med Genet. 1999;86(1):6-8.
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?
10440821
 FEMALE Adult
Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?
Berkenstadt M, Lev D, Achiron R, Rosner M, Barkai G.
Am J Med Genet. 1999;86(1):6-8.
The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors.
3130872
 MIXED_SAMPLE Adult
Bilateral pulmonary agenesis and microphthalmia.
Spear GS, Yetur P, Beyerlein RA.
Am J Med Genet Suppl. 1987;3:379-82.
We describe a stillborn boy with bilateral pulmonary agenesis associated with bilateral microphthalmia.