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Genet Couns ; 16(2): 145-8, 2005.
Article in English | MEDLINE | ID: mdl-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.


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