{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T13:44:52Z","timestamp":1758807892810},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,1,18]],"date-time":"2007-01-18T00:00:00Z","timestamp":1169078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two fetal cases of microphthalmia\/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew\u2010Wood syndrome (MWS; MIM 601186) or by the acronym \u201cPMD\u201d (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre\u2010 and perinatal diagnoses of Matthew\u2010Wood 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 <jats:italic>FGF10<\/jats:italic> and <jats:italic>FGFR2<\/jats:italic> 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 <jats:italic>FGF10<\/jats:italic> or <jats:italic>FGFR2<\/jats:italic>, this cognate ligand\u2010receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31599","type":"journal-article","created":{"date-parts":[[2007,1,18]],"date-time":"2007-01-18T17:47:41Z","timestamp":1169142461000},"page":"219-228","source":"Crossref","is-referenced-by-count":11,"title":["Matthew\u2010Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of <i>FGF10<\/i> and 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