Case report on SHORT syndrome

Abstract

The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short Stature, Hyperextensibility of joints and/or inguinal Hernia, Ocular depression, Rieger anomaly, and Teething delay. Other features characteristic of the syndrome included intrauterine growth retardation (IUGR), slow weight gain, frequent illness, triangular face, anteverted ears, telecanthus, deeply set eyes, wide nasal bridge, hypoplastic alae nasi, chin dimple, micrognathia, clinodactyly, partial lipodystrophy, hearing loss, functional heart murmur, delayed bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes. To our knowledge 19 cases of SHORT syndrome have been reported (Gorlin et al., 1975; Sensenbrenner et al., 1975; Aarskog et al., 1983; Toriello et al., 1985; Lipson et al., 1989; Schwingshandl et al., 1993; Verge et al., 1994; Bankier et al., 1985; Brodsky et al., 1996; Sorge et al., 1996; Haan and Morris, 1998). We report the twentieth patient diagnosed with SHORT syndrome who presented with growth retardation, sensorineural hearing loss, and minor dysmorphic features, consistent with the phenotype described for this syndrome.