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. Author manuscript; available in PMC: 2014 May 19.
Published in final edited form as: Clin Genet. 2011 Aug 24;82(2):121–130. doi: 10.1111/j.1399-0004.2011.01758.x

Table 1.

Summary of clinical features of all patients compared to the literature.

Patients 1 2 3 4 5 6 7 Total LIT NA
Feature
Hyperlaxity + + + + + + + 7 / 7 27 / 27 -
(Sub)luxations + + + + + + + 7 / 7 24 / 24 3
Hip dislocation + + + + + + + 6 / 7 25 / 25 2
Scoliosis + - - + - - + 3 / 7 15 / 20 7
Velvety skin + + + + + + + 7 / 7 12 / 12 15
Haematomas + + - + - - + 4 / 7 8 / 16 11
Abnormal scarring - - - + - - + 2 / 7 5 / 13 14
Criss-cross patterning + + + + + + + 6 / 7 2 / 2 25
Blue sclerae - - - - ± + + 3 / 7 2 / 5 22
Fractures - - - + - - - 0 / 7 6 / 15 12
Osteopenia NA NA NA + + NA NA 2 / 2 - 27
Wormian bones NA NA NA + - NA NA 1 / 2 2 / 2 25
Abnormal dentition ± NA - - + + + 4 / 6 1 / 3 24
Frontal bossing ± + + - + + + 6 / 7 2 / 5 22
Micrognathia + + + + + + + 7 / 7 4 / 5 22
Large fontanel + NA NA - + + NA 3 / 3 4 / 5 22
Short stature - - - + + + + 4 / 7 2 / 6 21
Other + - - + + + + - +
Gene COL1A2 COL1A2 COL1A2 COL1A2 COL1A1 COL1A1 COL1A1

Abbreviations: NA: data not tested in our patients or not available in original publication. LIT: literature, number of patients with certain phenotypic features and total number of patients for which there is mention of this particular feature

*

too young to be able to assess dentition.