Clinical features

• Autosomal recessive inheritance: in 10-20% the parents are related.

• Phenotypic expression of the disease varies widely, though similar in any given kindred. Most commonly presents as insidious evolution of pancytopenia, presenting in mid-childhood with a median age of presentation of 9 years. Cell lines affected asynchronously; isolated throm-bocytopenia may be first manifestation, lasting 2-3 years before other cytopenias occur.

• 10% present in adolescence or adult life, 4% present in early infancy (<1 year).

• Disorders of skin pigmentation common (60%)—cafe-au-lait spots, hypo- and hyperpigmentation.

• Short stature in 60%, microcephaly and delayed development in >20%.

• Congenital abnormalities can affect almost any system—skeletal defects common, >50% in the upper limb especially thumb, spine, ribs.

• Characteristic facies described—elfin-like, with tapering jaw line.

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