The acronym SHORT was first used by Gorlinet al.(1975) and Sensenbrenneret 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, anteterted ears, telecanlhus, 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 (Gorlinet al., 1975: Sensenbrenneret al., 1975: Aarskoget al., 1983; Torielloet al., 1985: Lipsonet al., 1989; Schwingshandlet al., 1993; Vergeet al., 1994; Bankieret al., 1985: Brodsk)et al., 1996: Sorgeet 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.
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