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
