A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
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.
Akalin
I
I
Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey.
Senses
D A
DA
Ilgin-Ruhi
H
H
Misirlioğlu
E
E
Yalçiner
M
M
Cetinkaya
E
E
Fryns
J P
JP
Tükün
A
A
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