Document Detail

A newborn with Beals syndrome.
MedLine Citation:
PMID:  16800419     Owner:  NLM     Status:  MEDLINE    
We present the case of a newborn with multiple connective tissue abnormalities. Careful examination of the infant and a detailed history from his mother indicated that they were both affected by Beals syndrome (congenital contractural arachnodactyly). A viable-term male infant was delivered to a healthy 30-year-old. The parents had no known history of familial birth defects. After delivery, it was noted that the infant could not extend either elbow past 90 degrees. Further examination revealed a crumpled helix of the ear, ulnar deviation of the fingers, campylodactyly, and hyperextensible ankles. Further questioning revealed that the mother also had hyperflexible wrists and ankles, and several dislocations of both patellae in childhood. She never received a diagnosis or treatment for her condition. A careful examination of newborn deformities and extensive history-taking from the parents can reveal previously unknown genetic traits. Thus, initiating early screening and intervention can positively impact a child's future.
Leslye Green; David Lesser
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Southern medical journal     Volume:  99     ISSN:  0038-4348     ISO Abbreviation:  South. Med. J.     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-06-27     Completed Date:  2006-07-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0404522     Medline TA:  South Med J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  617-9     Citation Subset:  AIM; IM    
Naval Hospital Pensacola, Family Medicine Department, 6000 West Highway 98, Pensacola, FL 32512, USA.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics
Ear, External / abnormalities
Fetal Diseases / ultrasonography
Heart Septal Defects, Atrial / ultrasonography
Infant, Newborn
Marfan Syndrome / diagnosis*,  genetics
Ultrasonography, Prenatal

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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