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KMID : 1202320230160030032
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Brain & NeuroRehabilitation
2023 Volume.16 No. 3 p.32 ~ p.32
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Borjeson-Forssman-Lehmann Syndrome: Clinical Features and Diagnostic Challenges
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Marya Hameed
Fatima Siddiqui
Fahad Hassan Sheikh
Muhammad Khuzzaim Khan
Bushra Admani
Prasanna Kumar Gangishetti
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Abstract
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Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive disorder resulting from mutations in the PHF6 gene. The syndrome is characterized by short stature, obesity, hypogonadism, hypotonia, intellectual disability, distinctive facial features, fleshy ears, and finger and toe abnormalities. However, the diagnostic challenge in identifying BFLS remains a topic of interest. In this case report, we present the clinical characteristics of a proband with BFLS, highlighting the additional features of hypotonia, intellectual disability, and distinctive facial features. While no definitive treatment exists for BFLS, patients benefit from specialized education and ongoing supervision from early childhood through adulthood. Symptomatic treatment, including close follow-up, may be necessary for complications such as seizures and hearing problems. Mastectomy or testosterone replacement therapy may be considered on a case-by-case basis. Genetic counseling for X-linkage should be offered to affected families.
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KEYWORD
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Genetic Counseling, Genetic Predisposition to Disease, Genetic Diseases, Inborn
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