J Korean Acad Rehabil Med.  1997 Jun;21(3):623.

A Child with Familial Hypophosphatemic Ricket: A case report

• Choi ES
• Kang SY
• Lee YS
• Choi JH

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.

Keyword

Familial hypophosphatemic ricket; Brainstem auditory evoked potential; Growth retardation; Genu varum

MeSH Terms

Alopecia
Auditory Pathways
Child*
Coxa Vara
Evoked Potentials, Auditory, Brain Stem
Female
Gait
Genu Valgum
Genu Varum
Hearing
Humans
Osteogenesis
Rickets, Hypophosphatemic*
Skull