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Congenital hypothyroidism in association with chromosome 3p25.3-pter deletion.

作者信息

Malhotra Atul, Bergman Phil, Brown Justin, Mc Gillivray George

机构信息

Monash Newborn, Monash Medical Centre, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia.

出版信息

J Pediatr Endocrinol Metab. 2011;24(9-10):787-8. doi: 10.1515/jpem.2011.331.

DOI:10.1515/jpem.2011.331
PMID:22145477
Abstract

This report describes a case of a neonate presenting with many of the typical phenotypic characteristics of chromosome 3p deletion including hypertelorism, flat nasal bridge, flat philtrum, thin lips and low-set ears. The hands and feet showed post axial polydactyly, single palmar creases and rocker bottom feet. A karyotype confirmed chromosome 3p25.3-pter deletion with normal parental karyotypes. A high TSH was noted on newborn screening and congenital hypothyroidism was confirmed on thyroid function tests. Thyroid nuclear imaging was suggestive of dyshormonogenesis. This is the first reported case of congenital hypothyroidism in an infant with chromosome 3p deletion.

摘要

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