Wolf-Hirschhorn syndrome: diagnosis using hand radiograph performed for bone age.

摘要

A boy aged 4 years 10 months with growth and weight retardation was admitted to our hospital. He presented with generalized hypotonia, seizures, impaired gait, peculiar facies (frontal bossing, epicanthus, irregularly shaped and low-set ears), hypospadia with undescended testes and skeletal anomalies (bilateral clubfoot, fourth-toe clinodactyly). A bone age radiograph of the hand (Fig. 1) showed severely delayed skeletal maturation with only two carpal centres visible; basal pseudoepiphyses of the 2nd, 4th and 5th metacarpals; distal pseudoepiphysis of the 1st metacarpal; and a peculiar tongue-joint-like malformation of the distal aspects of the proximal and middle phalanges (Fig.1).