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Journal of the Korean Academy of Rehabilitation Medicine 1997;21(3):623-623.
A Child with Familial Hypophosphatemic Ricket: A case report.
Choi, Eun Seok , Kang, Sae Yoon , Lee, Yeon Soo , Choi, Jang Hyu
1Department of Rehabilitation Medicine, The Catholic University of Korea, College of Medicine, Korea.
2Department of Radiology, The Catholic University of Korea, College of Medicine, Korea.
가족형 저인산염혈성 구루병 환아 1례 ⁣증례 보고⁣
최은석, 강세윤, 이연수*, 최장휴
가톨릭대학교 의과대학 재활의학교실 및 방사선과학교실*
Abstract

Familial hypophosphatemic ricket (Vitamin D-resistant ricket), first described by Albright in 1937, has been known to be transmitted as an X-linked dominant trait in most families. Children with this disease would show growth retardation with characteristic clinical features such as congenital alopecia, genu varum or genu valgum, coxa vara and waddling gait. Although the physical features associated with this disease have been documented frequently, the potential involvement of auditory pathway due to abnormal bone formation in skull has not been explored frequently.

We report a twenty six-month-old female child with familial hypophosphatemic ricket who presented abnormal findings of brainstem auditory evoked potential study. The impaired hearing function should be alerted as one of possible accompanying disabilities of the disease.

Key Words: Familial hypophosphatemic ricket, Brainstem auditory evoked potential, Growth retardation, Genu varum


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