Clinical Pediatrics

 

Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for free access to the SAGE eReference platform!

Sign In to gain access to subscriptions and/or personal tools.
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Belik, J.
Right arrow Articles by Zackai, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Belik, J.
Right arrow Articles by Zackai, E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
Clinical Pediatrics, Vol. 24, No. 9, 504-511 (1985)
DOI: 10.1177/000992288502400907

Respiratory Complications of Metatropic Dwarfism

Jaques Belik

From the Departments of Pediatrics, Orthopedics, and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

Endla K. Anday

Hospital of the University of Pennsylvania, Department of Pediatrics, 2 Maloney, 3400 Spruce Street, Philadelphia, PA 19104

Frederick Kaplan

From the Departments of Pediatrics, Orthopedics, and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

Elaine Zackai

From the Departments of Pediatrics, Orthopedics, and Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.

Two infants with clinical and radiologic features of metatropic dwarfism presented in the neonatal period with episodes of cyanosis. Diagnostic studies to determine the etiology of these spells, including electrocardiogram, electroencephalogram, arterial blood gases, and metabolic and sepsis studies, were unremarkable. Chest roentgenograms revealed the characteristic long, narrow thoracic cage with no evidence of parenchymal disease.

Cervical spine stability evaluation, pulmonary function studies, and chest impedance monitoring with qualitative air flow thermistor studies and transcutaneous oxygen monitoring were carried out. Both patients demonstrated a significant increase in resistance of the respiratory system following passive maneuvering of the head from a neutral position, suggestive of hypopharyngeal air flow obstruction. Obstructive sleep apnea resulting in cyanosis was documented in both patients. All other studies failed to yield a cause for the episodes of cyanosis. Our investigation failed to alter the clinical course which resulted in respiratory arrest and death by 7 months of age. A table is presented for the differentiation of skeletal dysplasias presenting in the perinatal period.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?