PURPOSE: To discuss the clinical and radiological manifestation of autosomal recessive (AR) brachyolmia, based on the recent identification of a causative gene, PAPSS2.
MATERIALS AND METHODS: We reviewed the clinical and radiological findings in three sporadic patients born with normal parents; one Korean boy and two Japanese girls aged 12 years, 11 years, and 9 years, respectively. Mutations for TRPV4 and PAPSS2 genes were sequenced.
RESULTS: Short-trunk short stature was the main clinical presentations and their heights were less than 3 percentile for age matched scales. Problems of hip and knee joints were not noticeable at the initial examinations. Back pain, scoliosis, kyphosis, and contracture of fingers were variably present among patients. The radiological findings were rectangular shape of platyspondyly with irregular end plates, significant narrowing of disc spaces, horizontal acetabular roof, and short and wide femoral necks with vertical striations. Metaphyseal vertical striations at the long bone ends were also noted in a Korean boy. One intriguing finding was advanced carpal bone ages in all three patients; however, their sexual development was appropriate for the ages. TRPV4 mutation causing autosomal dominant brachyolmia was negative and PAPSS2 mutations were discovered in all three patients.
CONCLUSION: Detailed evaluation of the clinical and radiological manifestations will be of value in establishing the correct diagnosis in this very rare type of AR brachyolomia, which is the important implication for genetic counseling.
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SS 23 PD-10.pdf
