Lenz microphthalmia syndrome
- Microphthalmia syndromic 1
- Lenz dysplasia
- Syndromic microphthalmia type 1
- MAA (formerly)
Your QuestionMy grandson has Lenz microphthalmia syndrome. Is there any information in the medical literaure, research studies, or clinical trials regarding the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with this syndrome?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Lenz microphthalmia syndrome?
- What skeletal anomalies are associated with Lenz microphthalmia syndrome?
- Is there any information in the medical literaure regarding research studies or clinical trials demonstrating the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with Lenz microphthalmia syndrome?
- Long cylindrical chest cavity (thorax)
- Sloping narrow shoulders
- Underdeveloped collarbones (clavicles)
- Kyphoscoliosis (curving of the spine both side to side as well as front to back, giving a “rounded back” appearance)
Is there any information in the medical literaure regarding research studies or clinical trials demonstrating the effectiveness of expansion thoracostomy (VEPTR) for treatment of children with Lenz microphthalmia syndrome?
Expansion thoracostomy is a surgical procedure to treat thoracic insufficiency syndrome, an inability of the chest cavity to support normal breathing or lung growth. Thoracic insufficiency syndrome may occur as a result of congenital birth defects or syndromes that interfer with the normal growth and development of the rib cage and spine. In children with progressive thoracic insufficiency syndrome (due to spinal deformity), the aims of treatment are to correct and stabilize the spinal deformity, preserve the growth potential of the spine, improve the size, symmetry, and function of the chest cavity, and promote normal lung growth. A vital period for lung growth is from birth to age 8. The shape and degree of deformity required to cause thoracic insufficiency syndrome will vary, requiring careful assesment of the deformity by physicians to anticipate how the deformity might later affect lung volume.
While we are not aware of research studies or clinical trials that evaluated the efficacy of expansion thoracostomy in children with Lenz microphthalmia syndrome specifically; you can find relevant articles on expansion thoracostomy in children with thoracic insufficiency syndrome in general through PubMed.gov.
PubMed.gov is a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "thoracic insufficiency syndrome AND expansion thoracostomy OR VEPTR" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
In addition, the following review articles provide further information on this topic. We recommend that you review the articles with a health care provider.
Sponseller P, Yazici M, Demetracopoulos C, Emans J. Evidence Basis for Management of Spine and Chest Wall Deformities in Children. Spine (Phila Pa 1976). 2007;32(19):S81-S90.
Campbell RM Jr. Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1815-27.
Richards BS, Sanders JO. Developing outcome measures for pediatric deformity surgery. Spine (Phila Pa 1976). 2007 Sep 1;32(19 Suppl):S73-80.
Yazici M, Emans J. Fusionless instrumentation systems for congenital scoliosis: expandable spinal rods and vertical expandable prosthetic titanium rib in the management of congenital spine deformities in the growing child. Spine (Phila Pa 1976). 2009 Aug 1;34(17):1800-7.
The Scoliosis Research Society may be able to provide you with further information on this topic. Their contact information is provided below.
Scoliosis Research Society
Milwaukee, WI 53202-3823
Web site: www.srs.org
- Lenz microphthalmia syndrome. Genetics Home Reference. 2008; http://www.ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome. Accessed 8/25/2010.
- Lenz microphthalmia syndrome. GeneTests. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lenz. Accessed 8/25/2010.
- Freeman BL. Scoliosis and Kyphosis. In: Canale, Beaty. Campbell's Operative Orthopaedics, 11th ed. Philadelphia, PA: Mosby; 2007;