Pregled bibliografske jedinice broj: 73962
Further delineation of the Toriello Carey syndrome
Further delineation of the Toriello Carey syndrome // The second European-American Intensive Course in Clinical and Forensic Genetics / Primorac, Dragan (ur.).
Zagreb, 2001. (poster, nije recenziran, sažetak, znanstveni)
CROSBI ID: 73962 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Further delineation of the Toriello Carey syndrome
Autori
Barišić, Ingeborg ; Juretić, Emilija ; Peter, Branimir ; Mikecin, Lili
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
The second European-American Intensive Course in Clinical and Forensic Genetics
/ Primorac, Dragan - Zagreb, 2001
Skup
2nd European-American Intensive Course in Clinical and Forensic Genetics
Mjesto i datum
Dubrovnik, Hrvatska, 3.-14.09.01
Vrsta sudjelovanja
Poster
Vrsta recenzije
Nije recenziran
Ključne riječi
Toriello-Carey syndrome; multiple congenital anomalies; autosomal recessive inheritance
Sažetak
Toriello-Carey syndrome is a rare multiple malformation/mental retardation syndrome characterised by dysmorphic facial features including telecanthus/hypertelorism, short palpebral fissures, small nose with anteverted nares, malformed ears, and Pierre Robin sequence. Affected patients also show several midline field defects: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defect. An unbalanced sex ratio was observed and X- linked or sex influenced mode of inheritance was proposed. We summarize 15 so far reported cases and present three new patients with additional findings delineating further the clinical spectrum .Two of our patients were sibs of different sex with a severe phenotype, which argues against the likelihood that this is an X-linked disorder with more severe manifestations in males.
Izvorni jezik
Engleski
Znanstvena područja
Javno zdravstvo i zdravstvena zaštita
