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Table 1 Epidemiological characteristics of SDS patients

From: Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review

Epidemiological characteristics

Proportion %(n/N)

Male

56.5(87/154)

Female

43.5(67/154)

Age at diagnosis (< 1year old)

37.2(54/145)

Age of onset(< 1month)

37.4(46/123)

Gestational weeks(< 37 W)

26.2(22/84)

Age of onset(< 1month) & Gestational weeks(< 37 W)

68.2(15/22)

Age of onset(< 1month) & Gestational weeks(≥ 37 W)

32.3(20/62)

Birth weight(< 2.5 kg)

45(26/58)

First symptoms

 Exocrine pancreatic insufficiency

30.8(48/156)

 Failure to thrive

23.8(37/156)

 Hematological abnormalities

23.1(36/156)

 Other*

  1. Other*: thoracic dysplasia, physical abnormality, skin staining, abnormal liver function, sternal tenderness, developmental delay and etc.