Subscribe to RSS
DOI: 10.1055/s-0041-1739386
Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins
![](https://www.thieme-connect.de/media/10.1055-s-00029027/202402/lookinside/thumbnails/10-1055-s-0041-1739386_2100024-1.jpg)
Abstract
Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings with this diagnosis have been reported but never twins. In this article, we provided a review and discussion of this syndrome following its presentation in monochorionic, diamnionic twin females.
Informed Consent
Informed consent was obtained from both parents for the publication of this report. The parents wished that their daughters would advance the scientific community.
Publication History
Received: 16 March 2021
Accepted: 29 September 2021
Article published online:
09 November 2021
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Cubuk PO, Ho L, Reversade B, Perçin EF. Matthew-Wood syndrome: a case with dextrocardia and streak gonads. Genet Couns 2016; 27 (03) 405-410
- 2 Microphthalmia syndromic 9. Genetic and Rare Diseases Information Center (GARD) – an NCATS program. . Available at: arediseases.info.nih.gov
- 3 Chitayat D, Sroka H, Keating S. et al. 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. Am J Med Genet A 2007; 143A (12) 1268-1281
- 4 Andijani AA, Shajira ES, Abushaheen A, Al-Matary A. Microphthalmia syndrome 9: case report of a newborn baby with pulmonary hypoplasia, diaphragmatic eventration, microphthalmia, cardiac defect and severe primary pulmonary hypertension. Am J Case Rep 2019; 20: 354-360
- 5 Spear GS, Yetur P, Beyerlein RA. Bilateral pulmonary agenesis and microphthalmia. Am J Med Genet Suppl 1987; 3: 379-382
- 6 Srour M, Chitayat D, Caron V. et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 2013; 93 (04) 765-772
- 7 Seller MJ, Davis TB, Fear CN, Flinter FA, Ellis I, Gibson AG. Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet 1996; 62 (03) 227-229
- 8 Li L, Wei J. A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet A 2006; 140 (14) 1564-1566