OBJECTIVE: Recognition of the phenotypic spectrum and prognosis of a genetic 
disorder is critical to proper patient care. A 7-year-old boy with 
Sphrintzen-Goldberg syndrome (SGS) was studied to investigate speech, language 
and voice patterns associated with this syndrome.
METHODS: The child's language (expressive and receptive) and speech was 
characterized with regard to overall intelligibility, articulation (phonetic and 
phonological errors), voice (flexible videolaryngostroboscopy, quality, pitch 
and loudness) and resonance (type of disorders).
RESULTS: Based on this detailed study the most striking communication 
characteristics in this child with SGS appear to be a delayed speech and 
language onset, an expressive and receptive language disorder, a moderately 
impaired speech intelligbility, relatively good phonetic but poorer phonological 
abilities, an oral hypotonia, a high-pitched soft voice and a slight 
hypernasality.
CONCLUSIONS: The explanation for this communication disorder is not completely 
straightforward. It is not clear either to what extent the present case can be 
considered as typical for SGS. Only more data will allow to determine whether or 
not SGS is associated with a typical syndrome specific pattern of communication 
disorders. Not only detailed speech and language analyses of additional cases of 
SGS are necessary, but also studies that compare the speech and language of 
individuals with SGS with that of individuals with other genetic syndrome.