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Anophthalmia with pulmonary hypoplasia

Also Known As:
Matthew Wood syndrome; Matthew-Wood syndrome; Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect
Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Slavotinek, Anne M: 3 articles (08/2014 - 12/2011)
2. Golzio, Christelle: 3 articles (05/2009 - 02/2007)
3. Martinovic-Bouriel, Jelena: 3 articles (05/2009 - 02/2007)
4. Manouvrier-Hanu, Sylvie: 2 articles (05/2009 - 06/2007)
5. Attié-Bitach, Tania: 2 articles (05/2009 - 02/2007)
6. Etchevers, Heather C: 2 articles (05/2009 - 06/2007)
7. Vekemans, Michel: 2 articles (06/2007 - 02/2007)
8. Xiao, Tong: 1 article (08/2013)
9. Baier, Herwig: 1 article (08/2013)
10. Bardakjian, Tanya: 1 article (08/2013)

Related Diseases

1. Anophthalmos (Anophthalmia)
2. Microphthalmos
02/01/2007 - "This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). "
06/15/2007 - "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."
08/15/2013 - "Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. "
12/01/2011 - "This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. "
06/01/2007 - "Molecular analysis of STRA6 was undertaken in two human fetuses from consanguineous families we previously described with Matthew-Wood syndrome in a context of severe microphthalmia, pulmonary agenesis, bilateral diaphragmatic eventration, duodenal stenosis, pancreatic malformations, and intrauterine growth retardation. "
3. CHARGE Syndrome
4. Tetrasomy
5. Fraser Syndrome

Related Drugs and Biologics

1. Lung agenesis
2. Vitamin A (Retinol)
3. Pallister Killian syndrome
4. Fryns syndrome
5. Oculofaciocardiodental syndrome
6. Donnai-Barrow syndrome
7. Familial duodenal atresia