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

I Akalin; D A Senses; H Ilgin-Ruhi; E Misirlioğlu; M Yalçiner; E Cetinkaya; J P Fryns; A Tükün

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

Genet Couns. 2005;16(2):145-8.

Authors

I Akalin¹, D A Senses, H Ilgin-Ruhi, E Misirlioğlu, M Yalçiner, E Cetinkaya, J P Fryns, A Tükün

Affiliation

¹ Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey.

PMID: 16080293

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Anophthalmos / diagnosis
Anophthalmos / genetics*
Chromosome Aberrations
Cleft Lip / diagnosis
Cleft Lip / genetics
Craniofacial Abnormalities / diagnosis
Craniofacial Abnormalities / genetics
Eyelids / abnormalities
Genes, Recessive
Humans
Hypoparathyroidism / diagnosis
Hypoparathyroidism / genetics*
Infant, Newborn
Male
Phenotype
Syndrome