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Pregled bibliografske jedinice broj: 538175

Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient


Dumić, Katja; Barišić, Ingeborg; Poročki, Kristina, Sansović, Ivona
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient // Journal of applied genetics, 52 (2011), 2; 209-212 doi:10.1007/s13353-010-0024-y (podatak o recenziji nije dostupan, prikaz, znanstveni)


CROSBI ID: 538175 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient

Autori
Dumić, Katja ; Barišić, Ingeborg ; Poročki, Kristina, Sansović, Ivona

Izvornik
Journal of applied genetics (1234-1983) 52 (2011), 2; 209-212

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, znanstveni

Ključne riječi
hypochondroplasia; Down syndrome

Sažetak
The simultaneous presence of Down syndrome and achondroplasia has rarely been reported in the literature, and our search revealed only six patients with such an association. We are reporting the first case of a patient with Down syndrome and hypochondroplasia. In this patient, Down syndrome was clinically recognised and confirmed by the cytogenetic finding of mosaic karyotype (47, XX, +21/46, XX) shortly after birth. She was subsequently diagnosed with hypochondroplasia at the age of 6 years when disproportional short stature, stocky habitus and macrocephaly were observed. These phenotypic findings were later confirmed by the presence of fibroblast growth factor receptor 3 (FGFR3) gene mutation N540K. The overlapping common clinical features of Down syndrome and hypochondroplasia resulted in delayed diagnosis of hypochondroplasia in our patient and the associated deleterious effect on her linear growth. Her final height is 126.5 cm, which is -3.76 standard deviations (SD) lower than the median height in patients with Down syndrome, and is under the lower borderline of the adult height range for women with hypochondroplasia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Barišić, Ingeborg, MZOS ) ( POIROT)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta

Profili:

Avatar Url Ingeborg Barišić (autor)

Avatar Url Katja Dumić Kubat (autor)

Poveznice na cjeloviti tekst rada:

doi link.springer.com

Citiraj ovu publikaciju:

Dumić, Katja; Barišić, Ingeborg; Poročki, Kristina, Sansović, Ivona
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient // Journal of applied genetics, 52 (2011), 2; 209-212 doi:10.1007/s13353-010-0024-y (podatak o recenziji nije dostupan, prikaz, znanstveni)
Dumić, K., Barišić, I. & Poročki, Kristina, Sansović, Ivona (2011) Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. Journal of applied genetics, 52 (2), 209-212 doi:10.1007/s13353-010-0024-y.
@article{article, year = {2011}, pages = {209-212}, DOI = {10.1007/s13353-010-0024-y}, keywords = {hypochondroplasia, Down syndrome}, journal = {Journal of applied genetics}, doi = {10.1007/s13353-010-0024-y}, volume = {52}, number = {2}, issn = {1234-1983}, title = {Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient}, keyword = {hypochondroplasia, Down syndrome} }
@article{article, year = {2011}, pages = {209-212}, DOI = {10.1007/s13353-010-0024-y}, keywords = {hypochondroplasia, Down syndrome}, journal = {Journal of applied genetics}, doi = {10.1007/s13353-010-0024-y}, volume = {52}, number = {2}, issn = {1234-1983}, title = {Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient}, keyword = {hypochondroplasia, Down syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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