Potocki-Lupski syndrome mimicking a connective tissue disorder.

Journal article

We report the case of a 16-year-old boy with 17p11.2 duplication (Potocki-Lupski syndrome, PTLS) and thoracic kyphosis. He was first referred to Clinical Genetics at the age of 21 2 years following a diagnosis of global developmental delay and benign hypotonia. He was noted to be a tall boy (height on the 90th centile and head circumference on the 97th centile) with long toes. He is the second child of non-consanguineous parents. Pregnancy was unremarkable, and he was born at full term by eme...

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Authors: Martin, J; Knight, S; Sharp, A; Eichler, E; Hurst, J

• Publication status: Published
• Journal: Clinical dysmorphology
• Volume: 17
• Issue: 3
• Pages: 211-213
• Publication date: 2008-07-01
• DOI: 10.1097/mcd.0b013e328303b9c2
• EISSN: 1473-5717
• ISSN: 0962-8827
• Language: English
• Keywords: Abnormalities, Multiple; Foot Deformities, Congenital; Adolescent; Humans; Chromosomes, Human, Pair 17; Chromosome Aberrations; Kyphosis; Connective Tissue Diseases; Intellectual Disability; Thoracic Vertebrae; Male