PMC3005667_01
Round-shaped face of the patient
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Short stature (height 125.5 cm, <3rd percentile), round-shaped face (Figure 1) and brachydactyly were recorded as pathological findings.
Brachydactyly and metacarpal shortening in the patient
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His total hand length was 12.7 cm (3rd percentile) and his palm length was 8 cm (<3rd percentile) (Figure 2). Radiological assessment showed a normal bone age and brachydactyly (short metacarpals, especially in the 4th and 5th fingers and short proximal phalanges, especially of 2nd, 3rd and 5th fingers) (Figure 2).
Pedigree of the family with PHP-Ia patient
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The family pedigree is shown on Figure 3.
Facial appearance of the patient at 24 years of age
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His pubertal development was at Tanner stage V and he had no gonadotropin resistance (Figure 4).