Fanconi's anemia in newborn.
Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ray defect, hemivertebrae and thrombocytopenia.
Parikh
Tushar B
TB
Department of Neonatology, Seth G.S. Medical College and King Edward VII, Memorial Hospital, Mumbai 400 012, India. tbparikh@rediffmail.com
Udani
Rekha H
RH
Nanavati
Ruchi N
RN
Rao
Babu
B
D000015:Abnormalities, Multiple / Q000235:genetics; D000853:Anophthalmos / Q000235:genetics; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013921:Thrombocytopenia / Q000235:genetics