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 Vol. 8 No. 3, March 2007
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NeoReviews Vol.8 No.3 2007 e110
© 2007 American Academy of Pediatrics

Newborn Presentation of Connective Tissue Disorders

Jodi D. Hoffman, MD*
Elicia A. Estrella, MS, CGC{dagger}

* Division of Genetics, Tufts-New England Medical Center, Boston, Mass
{dagger} Division of Genetics and Program in Genomics, Children’s Hospital Boston, Mass

Connective tissue disorders are a relatively common group of disorders that should be considered in any baby who has hypermobility or related multisystem involvement. Early diagnosis can decrease morbidity and improve many features of connective tissue disorders, including gross motor development, ambulation, and vision and hearing outcomes. Early echocardiography can identify congenital defects that need to be addressed surgically, treated prophylactically, or followed over time. Timely orthopedic management can address serious issues such as scoliosis, hip dysplasia, or fractures that must be treated to assure the best outcome possible. A genetic specialist often can aid in the initial recognition of signs and symptoms, guide molecular or protein analysis, explain information regarding recurrence risk and prognosis, and provide coordination of care throughout life.

Abbreviations: CCA: congenital contractural arachnodactyly/Beals syndrome • CTD: connective tissue disorder • EDS: Ehlers-Danlos syndrome • LDS: Loeys-Dietz syndrome • MFS: Marfan syndrome • nMFS: neonatal Marfan syndrome • SGS: Shprintzen-Goldberg syndrome • OI: osteogenesis imperfecta






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Copyright © 2007 by the American Academy of Pediatrics.