Denouement and Discussion
(Chronic Pancytopenia With Multiple Congenital Abnormalities)
Generalized petechiae and purpura may be present at birth or appear shortly thereafter. The increased bleeding tendency may cause epistaxis, melena, hematuria, vaginal bleeding, and intracranial hemorrhage. The severe anemia gives rise to pallor, fatigue, and occasionally congestive heart failure. Another frequent finding which may be present prior to hematological manifestations is increased pigmentation, involving mainly the trunk, axillae, and groin. Café-au-lait spots and occasionally areas of depigmentation are also found. Skeletal abnormalities are next in frequency, consisting of defects of the thumb, which may vary from absence of the digit to hypoplasia of the nail, and hypoplasia or absence of the radius and first metacarpal. The proximal phalanges tend to have a broad base and the ossification centers of the wrist are reduced. Short stature with microcephaly is not infrequently found. Various renal abnormalities have been noted,
Gellis SS, Feingold M, Moyer F. Picture of the Month. Am J Dis Child. 1967;113(5):583–584. doi:10.1001/archpedi.1967.02090200115013
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