PMC7378890_01
Photos and X-rays of Case-I (IV-7) are showing short trunk, coxavara, mild genu valgum (A,B) short first, fourth and fifth fingers and metacarpals (C,D) and absent fourth and fifth knuckles during fist formation (E), prominent heels, pes planus, brachydactyly of toes more prominent 4th and 5th with short metatarsals (F-I), A-P hips X-rays shows bilateral shallow saucerized acetabulum with abnormally flat and enlarged femoral head and narrow femoral neck, lace-like small iliac wings and bilateral coxa valga (J). X-rays of spines show double hump appearance with antero-inferior beaking of the vertebral bodies (K).
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F2
At 3-years of age, she was observed to have progressive skeletal changes (Figures 2A,B), with a waddling gait, difficulty to rise-up after sitting down and urine incontinence. SD) and weight was on a fifth percentile (32 kg). She had low hairline, broad chest, broad elbow, and broad wrist joints (Figures 2B-E). Short and broad hands with brachydactyly of first, fourth, and fifth fingers, with absent fourth and fifth knuckles during fist formation (Figures 2C-E). The lower limbs showed bilateral coxa valga, pes plans, prominent heels, bilateral brachydactyly of fourth and fifth toes (more in fourth), bilateral camptodactyly of second and third toes, and bilateral wide sandal gap (Figures 2F-I). The radiological findings coincided with the clinical reports; the radiological analysis revealed the abnormal development of hip joints and bones (Figure 2J). X-rays of spines revealed a double hump appearance with antero-inferior beaking of the vertebral bodies (Figure 2K).
PMC7378890_02
Case-II (IV-10) presenting short trunk, genu valgum more appreciated on the right side (A,B), brachydactyly of fingers (C), short toes with right second toe overriding the first (C,D). Radiological diagram of hip shows shallow acetabulum with abnormally flat and enlarged femoral head and narrow femoral neck, lace-like small iliac wings, and bilateral coxa valga (B,E). Case-III is a 4-year-old boy (IV-13) showing short trunk, broad chest, and pes planus (F).
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F3
On physical examination, mild short trunk, broad chest, pes plans, and microcephaly (Figure 3F) were observed.
PMC7378890_03
Case-II (IV-10) presenting short trunk, genu valgum more appreciated on the right side (A,B), brachydactyly of fingers (C), short toes with right second toe overriding the first (C,D). Radiological diagram of hip shows shallow acetabulum with abnormally flat and enlarged femoral head and narrow femoral neck, lace-like small iliac wings, and bilateral coxa valga (B,E). Case-III is a 4-year-old boy (IV-13) showing short trunk, broad chest, and pes planus (F).
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F3
On physical examination, mild short trunk, broad chest, pes plans, and microcephaly (Figure 3F) were observed.