Informace o publikaci
How to investigate a child with excesive growth? Sotos syndrome.
| Autoři | |
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| Rok publikování | 2024 |
| Druh | Konferenční abstrakty |
| Fakulta / Pracoviště MU | |
| Citace | |
| Popis | Background: The diagnostic approach to tall stature children in the outpatient clinic of hereditary metabolic disorders is based on collecting birth data, sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity, general examination and assessment of puberty, and bone age. Methods: When there is a history of psychomotor retardation, a family history of patological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned. The most frequent causes are Marfan syndrome and similar, Beckwith-Wiedemann syndrome, Klinefelter syndrome, Sotos syndrome, and MEN2B. Results: We present two patients with Sotos syndrome (MIM117550) who were confirmed by molecular-genetic examination of the NSD1 gene: in the first case, a previously undescribed pathogenic sequence variant was diagnosed, NSD1 (NM_022455.5) :c[6526_6549];[=], p.[(Glu2176_Cys2183del)];[(=)] and in the second, a very rare variant associated with a malignant tumor-neuroblastoma, NSD1 (NM_022455.5) :c[5127G>A];[=], p.[(Trp1709*)];[(=)]. In both cases, these were de novo variants. Conclusion: A patient with multisystem disability is a differential diagnostic challenge and may require a broad metabolic and genetic work up. |