| Literature DB >> 9832044 |
Abstract
This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.Entities:
Mesh:
Year: 1998 PMID: 9832044 PMCID: PMC1051490 DOI: 10.1136/jmg.35.11.948
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318