title: 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.
authors.affiliation: Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Akalin
authors.forename: D A
authors.initials: DA
authors.lastname: Senses
authors.forename: H
authors.initials: H
authors.lastname: Ilgin-Ruhi
authors.forename: E
authors.initials: E
authors.lastname: Misirlioğlu
authors.forename: M
authors.initials: M
authors.lastname: Yalçiner
authors.forename: E
authors.initials: E
authors.lastname: Cetinkaya
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: A
authors.initials: A
authors.lastname: Tükün
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome