Journal
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
Volume 29, Issue 1, Pages 42-46Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/DBP.0b013e318146903d
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Monozygotic 3.5-year-old twin boys presented for developmental assessment with a history of global developmental delay, behavioral issues including self-harm, and severe receptive and expressive language delays. Chromosome testing confirmed for both a 17p11.2 interstitial microdeletion commonly seen in Smith-Magenis syndrome (SMS), which is characterized by developmental delay, cognitive impairment, and facial and behavioral phenotype. To our knowledge, this is the first description in the literature of monozygotic twins with SMS. Despite their zygosity, the twins had marked differences in presentation including cardiac and renal anomalies, language development, and behavioral phenotype. Both twins displayed disordered speech development, impairments in social interaction, and stereotyped behaviors consistent with autism spectrum disorder, common in the vast majority of cases of SIVIS. Examining the differences in behavioral and clinical phenotype in monozygotic twins may lead to a better understanding of the cause of the clinical variability seen in SIVIS, as well as the natural history of this syndrome.
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