Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

Konala, Praveen; Kiely, Nigel; Noakes, Charlotte; Blair, Edward; Cassar‐Pullicino, Victor N.

doi:10.1007/s00247-017-3839-4

Cited by 5 publications

(6 citation statements)

References 9 publications

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“…Maas et al [2015], from a collaborative international study, reported 14 cases of LGS with deletions encompassing the TRPS1 gene, five of which had been previously reported in the literature, and we could access their molecular results [Carvalho et al, 2011;Chen et al, 2013;Schinzel et al, 2013;Plaza-Benhumea et al, 2014]. Five other cases were also molecularly described in previous reports and were included in our genotype-phenotype analysis [Li et al, 2015;Selenti et al, 2015;Hazan et al, 2016;Ruiz-Botero and Pachajoa, 2016;Konala et al, 2017] (Table 1). As for the phenotypic characteristics (Table 1), we identified exostoses, sparse hair, thickness of the eyebrows, shortening of metacarpal and metatarsal bones, cone-shaped epiphyses, a thick nasal septum, long philtrum, large ears, dental anomalies, dystrophic nails, scoliosis, hip dysplasia, brachydactyly, short feet, and abnormalities of joints in all patients evaluated for these characteristics.…”

Section: Discussionmentioning

confidence: 93%

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Favilla

Burssed

Coelho

et al. 2022

Cytogenet Genome Res

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Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the syndrome. We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of the TRPS1, RAD21, and EXT1 genes’ haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for the CSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the genotype-phenotype characterization for LGS patients.

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Section: Discussionmentioning

confidence: 93%

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Favilla

Burssed

Coelho

et al. 2022

Cytogenet Genome Res

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“…Bone involvement also includes cone-shaped epiphyses of the phalanges of the hands with deformity of the fingers, delayed bone age, osteochondromas, and hip malformations. Multiple long bone cysts with pathological fractures have recently been described in a case report [3].…”

Section: Discussionmentioning

confidence: 99%

“…No other radiological joint impairments (juxtaarticular osteopenia or erosions) were found. Radiographs of the pelvis and whole-body magnetic resonance imaging (looking for fine abnormalities, particularly long bone cysts not visible on plain radiographs) [3] were normal. The bone age was retarded at 12 years 6 months (the chronological age was 14 years 6 months).…”

Section: Case Presentationmentioning

confidence: 99%

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Nicolescu

Kasongo

Rausin

2018

Case Reports in Pediatrics

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Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.

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“…1,8,17,18 Hemivertebrae, long bone cysts, non-ossifying fibroma, tibial hemimelia, and duplicated thumb have been rarely reported. 1,[21][22][23] The most typical radiographic feature in TRPS is cone-shaped epiphyses, which are usually present in the second finger's middle phalanx. They are detectable typically after two years of age and can cause ulnar or radial deviation.…”

Section: Musculoskeletal and Radiologic Featuresmentioning

confidence: 99%

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant

et al. 2023

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Background. Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. TRPS type 2 (TRPS2) is a contiguous gene deletion syndrome involving loss of functional copies of the TRPS1, RAD21, and EXT1. Herein, we reported the clinical and genetic spectrum of seven TRPS patients with a novel variant. We also reviewed the musculoskeletal and radiological findings in the literature.Methods. Seven Turkish patients (three female, four male) from five unrelated families aged between 7 to 48 years were evaluated. The clinical diagnosis was confirmed by either molecular karyotyping or TRPS1 sequencing analysis via next-generation sequencing.Results. Both TRPS1 and TRPS2 patients had some common distinctive facial features and skeletal findings. All patients had a bulbous nose with hypoplastic alae nasi, brachydactyly, short metacarpals and phalanges in variable stages. Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was detected in two patients. Skeletal X-ray imaging revealed cone-shaped epiphysis of the phalanges in all, and multiple exostoses were present in three patients. Cerebral hamartoma, menometrorrhagia and long bone cysts were among the new/rare conditions. Three pathogenic variants in TRPS1 were identified in four patients from three families, including a frameshift (c.2445dup, p.Ser816GlufsTer28), one missense (c.2762G>A), and a novel splice site variant (c.2700+3A>G). We also reported a familial inheritance in TRPS2 which is known to be very rare. Conclusions.Our study contributes to the clinical and genetic spectrum of patients with TRPS while also providing a review by comparing with previous cohort studies.

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Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

Cited by 5 publications

References 9 publications

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant

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