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Fryns syndrome information


Fryns syndrome
Other namesDiaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Fryns syndrome is inherited in an autoosomal recessive manner.
SpecialtyMedical genetics Edit this on Wikidata

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period.[1] Fryns (1987) reviewed the syndrome.[2]

  1. ^ Alessandri L, Brayer C, Attali T, et al. (2005). "Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature". Genet. Couns. 16 (4): 363–70. PMID 16440878.
  2. ^ Fryns JP (May 1987). "Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia". J. Med. Genet. 24 (5): 271–4. doi:10.1136/jmg.24.5.271. PMC 1050049. PMID 3585941.

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