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Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.
ORPHA:2470Classification level: Disorder
Only five cases have been reported so far, two of whom were sibs.
One foetus also had micrognathism, cleft palate, upturned nasal tip with short upper lip and low-set ears. Pathologic findings included no obvious lobulation of the hypoplastic lungs, the heart had a single ventricle with hypoplastic left atrium, the spleen was hypoplastic and the uterus bicornuate. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect (eventration or hernia), and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect (organs developing simultaneously at approximately the fourth week of gestation). The autosomal recessive condition is referred to as Matthew-Wood syndrome and was probably named after one of the affected children. In the sib pair, the male infant survived for only 1 hour. Termination of pregnancy was performed in the case of the female foetus at 18 weeks of gestation because of findings of bilateral anophthalmia and hypoplastic lungs on ultrasound scan.
- Clinical genetics review
- English (2015)