Menzel D, Monnens L
Monatsschr Kinderheilkd. 1986 Oct;134(10):755-7.
In a 7 year old girl presenting with bone deformities, dwarfism, and a history of recurrent fractures osteogenesis imperfecta had been diagnosed at birth. Although she had been hospitalized several times, radiologic signs of rickets remained unnoticed. Laboratory data proved existence of hypophosphatemic vitamin D-resistant type of rickets, which was effectively treated with 1 alpha-hydroxycholecalciferol and phosphorus substitution. The combination of osteogenesis imperfecta type III and hypophosphatemic rickets may be coincident. It proves, however, the necessity to consider the possible simultaneous occurrence of two rare diseases. The therapeutic consequences could be important.
一名7岁女童因骨骼畸形、侏儒症及反复骨折病史就诊，出生时被诊断为成骨不全症。尽管她曾多次住院，但佝偻病的放射学征象一直未被发现。实验室检查结果证实存在低磷性维生素D抵抗型佝偻病，用1α-羟胆钙化醇和补充磷进行有效治疗。III型成骨不全症与低磷性佝偻病可能同时存在。然而，这证明有必要考虑两种罕见疾病同时发生的可能性。其治疗结果可能很重要。
