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. 2010 Jul 9;87(1):154–160. doi: 10.1016/j.ajhg.2010.06.010

Table 1.

Clinical Features of Subjects with Chromosome 17q23.2 Microduplication

Patient 5377-01 5377-02 5377-03 5377-06 5103-01 5103-03 5035-01 5035-04 5035-05
Age 3 5 35 D/C 10 44 54 47 47
Sex M F M M M M M M M
Height 4% 10% 5% 10% 4% 10% 5% 50% 50%
Clubfoot Bilateral Grade III - Bilateral Grade III Bilateral (unknown grade) Bilateral Grade IV Right Grade IV Bilateral (unknown grade) Bilateral (unknown grade) Bilateral (unknown grade)
Clubfoot treatment Conservative - Conservative Conservative Surgery Surgery Surgery Surgery Surgery
Hip dysplasia - + - - - - - - -
Nail hypoplasia - - - N/A + + - - -

Radiographic Abnormalities of Pelvis

Acetabular dysplasia + + - N/A - + N/A N/A N/A
Coxa valga + + + N/A + - N/A N/A N/A
Genu valgum + - - N/A - - N/A N/A N/A
Tall, narrow ilium - + + N/A + + N/A N/A N/A
Thickened inferior pubic ramus (ischium) + + + N/A + + N/A N/A N/A
Infra-acetabular axe-cut notches + - + N/A - + N/A N/A N/A
Lack of normal iliac flare + + + N/A + + N/A N/A N/A

Radiographic Abnormalities of Feet

Short and thickened first and/or second metatarsals + N/A + N/A + + - + +
Short calcaneus + N/A + N/A + + + + -
Hypoplastic distal tibial epiphysis + N/A + N/A + + N/A + N/A
Tufted distal phalanx of the first toe + N/A + N/A + + + + +

N/A indicates not available; D/C indicates deceased.