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A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

Abstract
A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.
AuthorsI Akalin, D A Senses, H Ilgin-Ruhi, E Misirlioğlu, M Yalçiner, E Cetinkaya, J P Fryns, A Tükün
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 16 Issue 2 Pg. 145-8 ( 2005) ISSN: 1015-8146 [Print] Switzerland
PMID16080293 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Anophthalmos (diagnosis, genetics)
  • Chromosome Aberrations
  • Cleft Lip (diagnosis, genetics)
  • Craniofacial Abnormalities (diagnosis, genetics)
  • Eyelids (abnormalities)
  • Genes, Recessive
  • Humans
  • Hypoparathyroidism (diagnosis, genetics)
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome

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