How to investigate a child with excesive growth? Sotos
syndrome.

a 2024

How to investigate a child with excesive growth? Sotos syndrome.

PROCHÁZKOVÁ, Dagmar; Veronika BURDA; Petra CIBULKOVA; Petra KONEČNÁ; Michal KÝR et al.

Základní údaje

Originální název

How to investigate a child with excesive growth? Sotos syndrome.

Autoři

PROCHÁZKOVÁ, Dagmar; Veronika BURDA; Petra CIBULKOVA; Petra KONEČNÁ a Michal KÝR

Vydání

SSIEM Annual Sympozium 2024,3-6 September, Porto, Portugal, 2024

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30202 Endocrinology and metabolism

Stát vydavatele

Portugalsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.800

Označené pro přenos do RIV

Organizační jednotka

Lékařská fakulta

ISSN

DOI

https://doi.org/10.1002/jimd.12788

Klíčová slova anglicky

excesive growth Sotos syndrome

Změněno: 23. 8. 2024 08:41, doc. MUDr. Dagmar Procházková, Ph.D.

Anotace

V originále

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.

Citovat

PROCHÁZKOVÁ, Dagmar; Veronika BURDA; Petra CIBULKOVA; Petra KONEČNÁ a Michal KÝR. How to investigate a child with excesive growth? Sotos syndrome. In SSIEM Annual Sympozium 2024,3-6 September, Porto, Portugal. 2024. ISSN 0141-8955. Dostupné z: https://doi.org/10.1002/jimd.12788.

@proceedings{2424757,
   author = {Procházková, Dagmar and Burda, Veronika and Cibulkova, Petra and Konečná, Petra and Kýr, Michal},
   booktitle = {SSIEM Annual Sympozium 2024,3-6 September, Porto, Portugal},
   doi = {https://doi.org/10.1002/jimd.12788},
   keywords = {excesive growth Sotos syndrome},
   language = {eng},
   title = {How to investigate a child with excesive growth? Sotos syndrome.},
   url = {http://jimd.org},
   year = {2024}
}

TY  - CONF
ID  - 2424757
AU  - Procházková, Dagmar - Burda, Veronika - Cibulkova, Petra - Konečná, Petra - Kýr, Michal
PY  - 2024
TI  - How to investigate a child with excesive growth? Sotos syndrome.
KW  - excesive growth Sotos syndrome
UR  - http://jimd.org
N2  - 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.
ER  -

PROCHÁZKOVÁ, Dagmar; Veronika BURDA; Petra CIBULKOVA; Petra KONEČNÁ a Michal KÝR. How to investigate a child with excesive growth? Sotos syndrome. In \textit{SSIEM Annual Sympozium 2024,3-6 September, Porto, Portugal}. 2024. ISSN~0141-8955. Dostupné z: https://doi.org/10.1002/jimd.12788.

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