Zespół Schinzela-Giediona

Zespół Schinzela-Giediona
Syndroma Schinzel-Giedion
Klasyfikacje
ICD-10

Q87.0
Zespoły wrodzonych wad rozwojowych dotyczące głównie wyglądu twarzy

DiseasesDB

32570

OMIM

269150

Zespół Schinzla-Giediona (ang. Schinzel-Giedion syndrome) – zespół wad wrodzonych uwarunkowany genetycznie, o dziedziczeniu autosomalnym dominującym. Został opisany po raz pierwszy przez Schinzela i Giediona w 1978 roku[1].

Fenotyp

Na obraz kliniczny zespołu składają się:

Charakterystycznym objawem jest alakrimia (brak wydzielania łez) przy osłabionym odruchu rogówkowym[2].

Przypisy

  1. A. Schinzel, A. Giedion, A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs, „American Journal of Medical Genetics”, 1 (4), 1978, s. 361-375, DOI10.1002/ajmg.1320010402, PMID665725.
  2. Manouvrier-Hanu S. Schinzel-Giedion syndrome and alacrima: a case first described in 1996. (Letter) Am. J. Med. Genet. 120A: 292-293, 2003.

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