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Table 2 Patient demographic, first symptoms and anthropometric data

From: Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Demographic

Number of patients

Total patients

21 (16 families)

 Female

15 (71%)

 Male

6 (29%)

Ethnicity

 Malay

12 (57%)

 Chinese

6 (29%)

 Indian

3 (14%)

Age at first symptoms

2.6 ± 2.1 (years, mean ± SD)

Age at diagnosis

6.9 ± 4.5 (years, mean ± SD)

First symptoms as reported by carers

 Pectus carinatum

12 (57%)

 Knock knees

9 (43%)

 Kyphosis

6 (29%)

 Short stature

6 (29%)

 Lax wrists

2 (10%)

 Abnormal gait

1 (5%)

 Falls

1 (5%)

Current age, at recruitment

15.5 ± 8.1 (years, mean ± SD)

Current height by age category, years

Mean, cm (min, max)

Z-score mean (min, max)a

 0–4 (n = 3)

85.2 (78.8, 91)

−3.5 (−4.8, −1.8)

 5–9 (n = 3)

90.8 (85.3, 97)

−6.2 (−8, −3.5)

 10–14 (n = 3)

93.5 (88, 97)

−8.4 (−9.4, −6.6)

 15–19 (n = 6)

96.8 (85, 124)

−10 (− 11.9, − 6.6)

 ≥ 20 (n = 6)

95.8 (83, 116)

− 10.7 (− 8.3, − 12.3)

  1. Abbreviations: max Maximum, min Minimum, SD Standard deviation, WHO World Health Organization
  2. aWHO growth charts used as reference population