This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

John L. Gwinn, MD; Fred A. Lee, MD; Wiener Leblanc, MD; Kenwyn Nicholls, MD; Catherine Fitzpatrick, MD

Am J Dis Child. 1970;120(5):451-452.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Clinical History.—A 4,590 gm (10 lb 2 OZ) girl, the product of a 40-week gestation, was born to a 27-year-old primigravida. Pregnancy was complicated by mild preeclampsia. At birth, the baby was depressed, cyanotic, and required positive pressure ressucitation. The one minute Apgar score was 5.

Physical Examination.—Upon admission in the nursery, the most striking physical findings were a narrow thorax with minimal expansion and short extremities. Roentgenograms of the chest and long bones were obtained.

Denouement and Discussion

Asphyxiating Thoracic Dystrophy

Asphyxiating thoracic dystrophy is a rare familial chondrodystrophy characterized by an early onset of respiratory distress, and in its severe form by a fatal outcome.

Clinically, the hallmarks of this disease are marked constriction of the thorax and short-limbed dwarfism with anomalies of the pelvis and extremities. Polydactyly, dental and renal anomalies are not uncommon.

The roentgenographic findings are typical and provide the diagnosis. The skeletal anomalies are discernible . . . [Full Text PDF of this Article]

Author Affiliations
Los Angeles; New York

From the Department of Pediatrics, Harlem Hospital Center/ Columbia University, New York.

Footnotes
Received for publication May 25, 1970.

Reprint requests to Childrens Hospital of Los Angeles, 4650 Sunset Blvd, Los Angeles 90054 (Dr. Gwinn).

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