Arch Fr Pediatr. 1975 Nov;32(9):835-48.

[Cat eye syndrome with pituitary dwarfism and normal mental development].

[Article in French]

Abstract

In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.

PMID:: 1217955; [PubMed - indexed for MEDLINE]

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A newborn with the cat-eye syndrome. [Humangenetik. 1972]
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Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, et al. Hum Genet. 1981; 57(2):148-58.
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Walknowska J, Peakman D, Weleber RG. Am J Ophthalmol. 1977 Oct; 84(4):477-86.
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[Cat eye syndrome with pituitary dwarfism and normal mental development].

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