Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

@article{Dasouki2007CompoundHM,
  title={Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.},
  author={Majed J. Dasouki and Dessislava Z. Markova and Robert E. Garola and Takako Sasaki and Noe L. Charbonneau and Lynn Y. Sakai and M K Chu},
  journal={American journal of medical genetics. Part A},
  year={2007},
  volume={143A 22},
  pages={2635-41}
}
Mutations involving elastic tissue proteins result in a broad spectrum of phenotypes affecting skin, skeleton, ocular and vascular structures, including tortuous blood vessels and cutis laxa. Here we report on a female newborn with apparently long fingers, aortic aneurysm, tortuous pulmonary arteries and mild generalized lax skin. She died at 27 days of age due to severe respiratory distress and inoperable systemic vascular abnormalities. Skin biopsy showed marked paucity and fragmentation of… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 42 extracted citations

Similar Papers

Loading similar papers…