Fanconi's anemia in newborn

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 newb...

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Veröffentlicht in:Indian pediatrics 2005-03, Vol.42 (3), p.285-287
Hauptverfasser: Parikh, Tushar B, Udani, Rekha H, Nanavati, Ruchi N, Rao, Babu
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Anophthalmos - genetics
Fanconi Anemia - diagnosis
Fanconi Anemia - genetics
Humans
Infant, Newborn
Male
Thrombocytopenia - genetics
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Zusammenfassung: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.
ISSN:0019-6061