1. DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome.
- Author
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Mattei, Davide, Cavarzere, Paolo, Gaudino, Rossella, Antoniazzi, Franco, and Piacentini, Giorgio
- Subjects
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SEIZURES (Medicine) , *GROWTH disorders , *HEARING disorders , *PEOPLE with intellectual disabilities , *SPASMS , *STATURE , *SYNDROMES , *TEETH abnormalities , *MULTIPLE human abnormalities , *SYMPTOMS , *ADOLESCENCE - Abstract
Background: Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic features should always lead to exclude an underlying syndromic disorder. Case presentation: We report the case of an Indian school-aged boy with dysmorphic features, intellectual disability and a clinical history characterized by seizures and hearing problems. Although his height was always included in the normal range for age and sex throughout childhood, he presented a short near-adult stature in relation to his mid-parent sex-adjusted target height. This is probably due to a rapidly progressive pubertal development. Conclusions: In the presence of characteristic dysmorphic features, intellectual disability, seizures and hearing problems, KBG syndrome should always be considered. This emergent condition presents a wide spectrum of clinical phenotypes and is often associated with adult short stature. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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