case_images: PMC3005667_01
case_images: Round-shaped face of the patient
case_images: JCRPE-2-85-g1.jpg
case_images: PMC3005667_01_JCRPE-2-85-g1.jpg
case_images: fg2
case_images: Short stature (height 125.5 cm, <3rd percentile), round-shaped face (Figure 1) and brachydactyly were recorded as pathological findings.
case_images: Brachydactyly and metacarpal shortening in the patient
case_images: JCRPE-2-85-g2.jpg
case_images: PMC3005667_01_JCRPE-2-85-g2.jpg
case_images: fg3
case_images: 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).
case_images: Pedigree of the family with PHP-Ia patient
case_images: JCRPE-2-85-g3.jpg
case_images: PMC3005667_01_JCRPE-2-85-g3.jpg
case_images: fg4
case_images: The family pedigree is shown on Figure 3.
case_images: Facial appearance of the patient at 24 years of age
case_images: JCRPE-2-85-g4.jpg
case_images: PMC3005667_01_JCRPE-2-85-g4.jpg
case_images: fg5
case_images: His pubertal development was at Tanner stage V and he had no gonadotropin resistance (Figure 4).