Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II;
MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency
of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic
syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701).
We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassing
EXT1 and RAD21 genes but not TRPS1. Clinical findings in this patient are correlated with a mixed phenotype of LGS and
CdLS type 4.
Keywords
Langer–Giedion's syndrome - Cornelia de Lange's syndrome - 8q23.3-q24.1 deletion -
multiple exostoses - premature adrenarche