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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa
American Journal of Medical Genetics, Volume 130 A, No. 2, Year 2004
Notification
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Description
A girl with severe pre- and post-natal short stature, low-pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development is described. The girl's parents are first cousins. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. To the best of our knowledge, this association had not been previously reported, and may be considered a newly recognized syndrome. © 2004 Wiley-Liss, Inc.
Authors & Co-Authors
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Melick, Nancy
Lebanon, Beirut
Saint George Hospital University Medical Center
Daou, Linda S.
Lebanon, Beirut
Hôtel-dieu de France Hospital
Statistics
Citations: 7
Authors: 3
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.30138
ISSN:
15524825
Research Areas
Sexual And Reproductive Health
Participants Gender
Female