Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion

Abstract

Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval.

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

“…other skeletal abnormalities like tibial hemimelia (hypoplasia of the tibia) were described in some reported cases of LGS and an 8q23.1-q24.12 interstitial deletion [5] which was not found in our patient.…”

“…TRPS II (OMIM 150230) is a contiguous gene syndrome which has in addition cartilaginous exostosis in ribs and vertebrae in addition to redundant skin and hypermobile joints. It is caused by loss of functional copies of TRPS1 and EXT1 genes secondary to 8q microdeletion [4,5]. Also while TRPS I is inherited in an autosomal dominant fashion, most cases of TRPS II are sporadic [1].…”

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

“…We present the results of studies in 103 patients including ninety-six patients that have not been published before, and seven that have been published [Rocha Carvalho et al, 2011;Schinzel et al, 2013;Chen et al, 2013;Plaza-Benhumea et al, 2014]. The clinical data are presented in Tables I-IV and illustrated in Figs.…”

“…The genotype was obtained either from literature if patients had been published [Rocha Carvalho et al, 2011;Schinzel et al, 2013;Chen et al, 2013;Plaza-Benhumea et al, 2014], or the referring clinician. In the majority of patients, DNA had been analysed at the University Hospital in Essen, Germany (HJL).…”

Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

“…Six cases with interstitial deletion delimited by aCGH on the 8q23.3–q24.1 region, ranging from 25·93 to 1·47 mb, have been reported . Heterozygous defects of the TRPS1 , RAD21 or EXT1 genes cause TRPS I, Cornelia de Lange syndrome 4 or multiple exostoses, respectively; our proband harboured features observed in these diseases.…”