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

Abstract

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). Whilst delayed bone age can be considered a typical radiological finding for 4pdeletion or Wolf-Hirschhorn syndrome (WHS) [1], features such as tongue-joint malformations and multiple basal pseudoepiphyses are not as well known [2]. Further radiological signs of WHS include skull malformation, skeletal anomalies such as fused vertebrae, underdevelopment of the cervical spine, small pelvis with underdeveloped or absent pubic bones, “bottle opener” shaped clavicles and anomalous sternal ossification [1, 2].