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. 2022 Aug 8;11(15):4622. doi: 10.3390/jcm11154622

Table 2.

Clinical characteristics of the examined patients diagnosed with hypophosphatemic rickets.

Patient Clinical Symptoms Medical Interview Genetic Study/Mutation Treatment
Varus Deformity
of the Lower Limbs
Other bone Deformities Gait Disturbances Bone Pain Fractures Short Stature Pharmacological Surgery
P1 Yes Yes (deformations
of the rib arches)
Yes No No Yes Negative Not performed Yes Yes
P2 Yes Yes (lumbal hyperlordosis) Yes No No No Negative Not performed Yes Yes
P3 Yes No No No No No Positive
-hypophosphatemic rickets/brother
Positive-PHEX gene mutation Yes No
P4 Yes Yes (deformations
of the rib arches)
No No No No Positive-hypophosphatemic rickets/brother Positive-PHEX gene mutation Yes No
P5 Yes No No Yes No Yes Positive-hypophosphatemic rickets/mother Positive-PHEX gene mutation Yes No
P6 Yes No Yes No No Yes Negative Positive-PHEX gene mutation Yes No
P7 Yes Yes (deformations of the rib arches) Yes Yes No Yes Negative Positive-PHEX gene mutation Yes Yes
P8 Yes No No No No No Negative Pending Yes No
P9 Yes No No No Yes Yes Positive-hypophosphatemic rickets/mother and grandmother Positive-PHEX gene mutation Yes No
P10 Yes No No No No No Positive-hypophosphatemic rickets/mother Pending Yes No
P11 Yes No No Yes No Yes Negative Positive-PHEX gene mutation Yes No
P12 Yes Yes (scoliosis) No Yes No No Negative Positive-PHEX gene mutation Yes No