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.
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Authors | I Akalin, D A Senses, H Ilgin-Ruhi, E Misirlioğlu, M Yalçiner, E Cetinkaya, J P Fryns, A Tükün |
Journal | Genetic counseling (Geneva, Switzerland)
(Genet Couns)
Vol. 16
Issue 2
Pg. 145-8
( 2005)
ISSN: 1015-8146 [Print] Switzerland |
PMID | 16080293
(Publication Type: Case Reports, Journal Article)
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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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