Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years
The presentation of 48,XXYY is varied, including oral motor deficits, hypotonia, positional and congenital muscular torticollis, respiratory issues, and inner-ear dysfunction. Early presentations of infantile developmental dyspraxia are evident by 18 months, specifically as discrepancies between fine and gross motor and expressive and receptive language skills. This series provides additional insight into the phenotypic presentation of male patients with 48,XXYY during infancy and early childhood and identifies common complications.
Authors
- Antonie D. Kline (ORCID: https://orcid.org/0000-0002-7863-2994)
- Elizabeth Tipton (ORCID: https://orcid.org/0000-0001-5608-1282)
- Teresa Sadeghin
- Andrea Lynne Gropman (ORCID: https://orcid.org/0000-0002-2106-6776)
- Carole Samango‐Sprouse (ORCID: https://orcid.org/0000-0001-9941-0568)
- Francie Mitchell
- Elizabeth Buscema
- Margaret Olaya
- Debra Counts
Institutions
- Greater Baltimore Medical Center (US)
- St. Jude Children's Research Hospital (US)
- Davidson College (US)
- George Washington University (US)
- Florida International University (US)
- Sinai Hospital (US)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-12-18
- DOI
- https://doi.org/10.3389/fendo.2025.1688851
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00