An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy

Abstract

We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case.

Keywords: 8q23.3–q24.22 deletion; BAC; CDLS4; CT; Cornelia de Lange syndrome-4; EDS; EXT1; Ehlers–Danlos syndrome; FISH; LGS; Langer–Giedion syndrome; NCBI; National Center for Biotechnology Information; OMIM; Online Mendelian Inheritance in Man; QF-PCR; RAD21; TRPS; TRPS1; Trichorhinophalangeal syndrome; aCGH; array comparative genomic hybridization; bacterial artificial chromosome; computed tomography; del; deletion; fluorescence in situ hybridization; quantitative fluorescent polymerase chain reaction; trichorhinophalangeal syndrome.