Khan P A, Mustafa G, Shabbir G, Matloob Azam, Athar N, Zulqarnain A.
X-Linked Hypophosphatemic Rickets: report of a family from Southern Punjab, Pakistan.
J Pak Med Assoc Jan ;54(6):336-8.

A 6-year-old child was brought for progressive inability to stand and walk for the last 6 months. He was 4th in birth order among six children of the consanguiant parents and was born at full term as simple vaginal delivery at home. Examination revealed a cooperative, pale child with height 89 centimeter (cm) and weight 12 kilogram (kg) (both less than 3rd centile for his age). He had marked knock-knee and widened legs, to the extent that he could not stand or walk. The inter-maleolar distance was more than 20 cm, in supine position. He had frontal bossing, caput quadratum, widening of the ankle joints, and smooth bowing of the lower legs. The systemic examination was insignificant but the family history was significant. Of his five siblings, the sister and three brothers were normal looking while the eldest brother had mild bowing of the legs and short stature. The mother and paternal grand-mother were reported to have short stature but not the bony deformities. Eldest son: Although he had a chronological age of 14 years, there had also been a failure of linear growth since his childhood, and he had gradually developed mild deformities of the lower limbs. Father had no bony deformity or abnormality on systemic examination. He had been operated at 27 years age for stones in the left kidney. Since then, he has had, off and on, colicky abdominal pain in the left loin. The complete blood counts showed mild degree of anemia in the affected subjects. The serum and urinary calcium were normal in all subjects. None of them had glycosuria or proteinuria except the two affected brothers who showed insignificant proteinuria of 1+(<30mg/dl). The alkaline phosphatase was raised in the affected brothers and both also had hypophosphatemia. The unaffected subjects were normocalcemic and normo-phosphatemic. Continued …

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