A patient with the SOPH (short stature, optic atrophy and Pelger-Huet anomaly) syndrome may present with a number of clinical and laboratory features.

Gene affected: NBAS (neuroblastoma amplified sequence)

Location: 2p24.3


Inheritance: autosomal recessive


Clinical features:

(1) dysmorphic face (pointed chin, proptosis, small mouth with thin lips, large and broad forehead)

(2) short stature

(3) slender long tubular bones

(4) epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses

(5) small C1-C2 vertebrae with potneital for myelopathy from cervical instability

(6) retinal dystrophy and optic atrophy

(7) frequent infections

(8) thick medial eyebrows

(9) variable fever-triggered acute liver disease

(10) loose and wrinkled skin with reduced subcutaneous fat


Laboratory features:

(1) Pelger-Huet anomaly in granulocytes

(2) hypogammaglobulinemia

(3) reduced natural killer (NK) cells

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