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Case Reports
. 2004 Mar-Apr;24(2):129-32.
doi: 10.5144/0256-4947.2004.129.

Fryns syndrome: a case associated with karyotype XO

Nader M H Dawani  1 , Abdul Raoof Al Madhoob, Fuad Abdulla Ali, Fatima Shabib
Affiliations
Case Reports

Fryns syndrome: a case associated with karyotype XO

Nader M H Dawani et al. Ann Saudi Med. 2004 Mar-Apr.
No abstract available

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Figures

Figure 1
Figure 1
Chest x-ray showing right diaphragmatic hernia with the liver occupying the right hemi thorax.
Figure 2
Figure 2
Coarse facial features with micrognathia, depressed nasal bridge and facial hair overgrowth.
Figure 3
Figure 3
Hypoplastic nail of little finger.
Figure 4
Figure 4
Hypoplastic nail of the toe and non pitting generalized oedema.
Figure 5
Figure 5
Broad medial border of the clavicle.
Figure 6
Figure 6
Hypoplastic distal phalanx of the little finger.
See this image and copyright information in PMC

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References

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    1. Fryns JP, Moerman F, Goddeeris P, et al. A new lethal syndrome with cloudy cornea, diaphragmatic defects, and distal limb deformities. Hum Genet. 1979;50:65–70. - PubMed
    1. Clark RD, Fenner-Gonzales M. Apparent Fryns syndrome in a boy with a tandem duplication of chromosome 1q24-31.2. Am J Med Genet. 1989;34:422–426. - PubMed
    1. de Jong G, Rossouw RA, Retief AE. Chromosome 15 in a patient with features of Fryns’ syndrome. J Med Genet. 1989 Jul;26(7):469–470. - PMC - PubMed
    1. Krassikoff N, Sekhon GS. Terminal deletion of 6q and Fryns syndrome: a microdeletion / syndrome pair? Am J Med Genet. 1990 Jul;36(3):363–364. - PubMed

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