Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.
We describe an infant with homozygous alpha-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.
Abuelo
D N
DN
Division of Genetics, Rhode Island Hospital, Providence 02903, USA.
Forman
E N
EN
Rubin
L P
LP
D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000175:diagnosis; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D011247:Pregnancy; D013576:Syndactyly; D017085:alpha-Thalassemia / Q000150:complications*