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. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110

Table 3.

Clinical symptoms identified in the patients presenting with osteopoikilosis.

Patient IV:15 Patient IV:17 Patient III:13 Patient III:10 Patient IV:8
(female; 26 years) (female; 24 years) (male; 60 years) (female; 54 years) (male; 19 years)
EXT1 mutation status p.A578T p.A578T p.A578T - -
Painful hands and feet + + + + +
Dermatofibrosis - - - + -
Additional skin changes - - Vitiligo - -
Other symptoms/disorders TOF, Ovarian cyst Sinus cyst DM2 - -
Laboratory tests (Ca, P, AP, ACP) NE NE NE Normal NE

TOF - tetralogy of Fallot; DM2 - diabetes mellitus type 2; NE - not examined; Ca - calcium; P - phosphate; AP - alkaline phosphatase; ACP - acid phosphatase