Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I

Barros, Guilherme; Kakehasi, Adriana María

doi:10.1016/j.rbr.2014.08.018

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…Radiographic studies of pelvis and hip resulted often unspecific, showing hip anomalies such as coxa vara, coxa plana, and coxa magna, Perthes disease-like femoral head changes. Multiple exostoses of long tubular bones are typical of TRPS II [ 13 , 14 ].…”

Section: Discussionmentioning

confidence: 99%

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An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

et al. 2018

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BackgroundTrichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.Case presentationWe report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Postnatal growth was always below − 2 Standard Deviation for both weight and length and physical examination revealed relative macrocephaly, sparse hair, bulbous nasal tip, thin upper lip, protruding ears, prominent forehead, small jaw, and short hands and feet. Patient’s mother shared the same facial features, and presented sparse hair and small hands. The maternal grandfather and two uncles presented short stature, bulbous nasal tip, thin hair, and premature alopecia. Molecular analysis of TRPS1 gene showed a heterozygous c.2086C > T;(p.Arg696Ter) mutation both in the patient and her mother, confirming the diagnosis of TRPS, type I.ConclusionsClinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examination and an exhaustive family history are crucial to reach the correct diagnosis, which is essential to perform adequate follow-up and timely therapeutic procedures.

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Section: Discussionmentioning

confidence: 99%

“…Physiotherapy could improve joint mobility. Physical exercise should be proposed, while discouraging high-impact or contact sports [ 14 , 23 ].…”

Section: Discussionmentioning

confidence: 99%

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

et al. 2018

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“…Protein produced by TRPS1 was a transcription factor and played an important role in skeletal development by influencing osteoblast cell differentiation and osteocalcin expression (Piscopo et al 2009). Deletion of TPRS1 could cause skeletal abnormalities called skeletal abnormalities of tricho-rhino-phalangeal syndrome type I, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix (de Barros and Kakehasi 2016).…”

Section: Discussionmentioning

confidence: 99%

Identifying potentially common genes between dyslipidemia and osteoporosis using novel analytical approaches

et al. 2018

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Dyslipidemia (DL) is closely related to osteoporosis (OP), while the exact common genetic mechanisms are still largely unknown. We proposed to use novel genetic analysis methods with pleiotropic information to identify potentially novel and/or common genes for the potential shared pathogenesis associated with OP and/or DL. We assessed the pleiotropy between plasma lipid (PL) and femoral neck bone mineral density (FNK BMD). We jointly applied the conditional false discovery rate (cFDR) method and the genetic analysis incorporating pleiotropy and annotation (GPA) method to the summary statistics provided by genome-wide association studies (GWASs) of FNK BMD (n = 49,988) and PL (n = 188,577) to identify potentially novel and/or common genes for BMD/PL. We found strong pleiotropic enrichment between PL and FNK BMD. Two hundred and forty-five PL SNPs were identified as potentially novel SNPs by cFDR and GPA. The corresponding genes were enriched in gene ontology (GO) terms "phospholipid homeostasis" and "chylomicron remnant clearance". Three SNPs (rs2178950, rs9939318, and rs9368716) might be the pleiotropic ones and the corresponding genes NLRC5 (rs2178950) and TRPS1 (rs9939318) were involved in NF-κB signaling pathway and Wnt signaling pathway as well as inflammation and innate immune processes. Our study validated the pleiotropy between PL and FNK BMD, and corroborated the reliability and high-efficiency of cFDR and GPA methods in further analyses of existing GWASs with summary statistics. We identified potentially common and/or novel genes for PL and/or FNK BMD, which may provide new insight and direction for further research.

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

et al. 2017

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Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in this condition. We report a unique case of bone cysts involving multiple long bones detected with MRI in a patient with trichorhinophalangeal syndrome type II complicated by a subsequent pathological fracture. It is possible that the bone cysts are a previously undescribed feature of this syndrome; however, the evidence is insufficient to establish a definite association. Chromosomal abnormality identified in this patient is consistent with trichorhinophalangeal syndrome type II with no unusual features. Although the nature of these bone cysts is unclear, they are one of the causes of the known increased fracture risk observed in this syndrome.

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Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I

Cited by 4 publications

References 8 publications

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Identifying potentially common genes between dyslipidemia and osteoporosis using novel analytical approaches

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

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