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Fanconi anemia is an inherited autosomal recessive, characterized by the gradual development of pancytopenia in childhood.

It is frequently associated with various congenital anomalies including mainly skeletal abnormalities, heart and kidneys, central nervous system malformations with mental retardation and abnormal skin pigmentation.

It was described by Fanconi in 1927 and in 1931 suggested that the term Naegeli “Fanconi Anemia” is used for patients with aplastic anemia with congenital malformations and family.Clinical Manifestations

It has been observed that most patients were male (ratio of approximately 1.3:1). Also, most often begin their symptoms at school age: four to seven years in boys and six to ten years in girls, with rare clinical presentation of the age of breastfeeding.

The onset of the disease is usually gradual and symptoms are mainly related to the development of progressive pancytopenia intensification. In fact, hematologic manifestations are similar to those seen in acquired aplastic anemia. This can be observed at the beginning manifestations attributable to thrombocytopenia as petechiae, bruising, or severe episodes of epistaxis or gastrointestinal bleeding. Subsequently become evident signs of anemia that mainly include pallor, easy fatigue, weakness and hyperoxia.

Various congenital anomalies are observed in patients with Fanconi anemia. Three-quarters of cases have retarded body growth has been observed in some patients deficient production of growth hormone. In this regard, the association of alterations in the metabolism of melanin body growth retardation, suggesting a common defect in the hypothalamic-pituitary area because both the metabolism of melanin production of growth hormone are controlled this brain region.

The skin hyperpigmentation that develops in some children with Fanconi anemia, is often central distribution affecting the neck, armpits, areola, abdomen, navel, genitals and English. It can also occur in a diffuse form with a predilection for skin folds or appear as spots. Histological hypermelanosis essentially rests.

Referring to the central nervous system and sense organs, there has been microcephaly, microphthalmia, epicanthal folds, ptosis, strabismus, nystagmus, deafness and ear deformities.

Skeletal anomalies were present in two thirds of patients, especially in the hands and forearm. A high proportion of children have abnormalities of the thumbs ranging from hypoplasia to absence of finger and thumb nail triphalangeal. Other alterations include absence of radial pulse, hypoplasia of the first metacarpal or the thenar eminence. The radiographic study may show morphological or aplasia of the radius.

The renal abnormalities may include duplication of pelvis, hydronephrosis, cysts, horseshoe kidney or ectopic kidneys.

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