We describe two sibs with pulmonary hypoplasia and anophthalmia; one also had a number of other malformations. Only one other broadly similar case could be found in the literature, and it was an isolated occurrence. The condition is named the Matthew-Wood syndrome.
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http://dx.doi.org/10.1002/(SICI)1096-8628(19960329)62:3<227::AID-AJMG5>3.0.CO;2-Q | DOI Listing |
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