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Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

✍ Scribed by Abuelo, Dianne N.; Forman, Edwin N.; Rubin, Lewis P.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
131 KB
Volume
68
Category
Article
ISSN
0148-7299

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✦ Synopsis


We describe an infant with homozygous ␣thalassemia, genital abnormalities, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis. We propose these defects were due to either severe fetal anemia or to vascular occlusion by abnormal erythrocytes, resulting in hypoxia of the developing distal limbs and genitalia. Am.