A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).
The combination of anophthalmia and pulmonary hypoplasia with abnormal lobation is an extremely rare congenital disorder. We describe a case of a female newborn with these features that fits the recently described Matthew-Wood syndrome.
Li
Lin
L
Department of Pathology, Hartford Hospital, CT 06102, USA. linli66@yahoo.com
Wei
Jueyang
J
D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D024002:HMGB Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D010641:Phenotype; D055748:SOXB1 Transcription Factors; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D024002:HMGB Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors