Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect

Patil, Dr. Shwetha; Bhat, Meenakshi; Rao, Sanjay; Krishnan, René

doi:10.1007/s12098-009-0017-1

Cited by 4 publications

(9 citation statements)

References 9 publications

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“…SCT syndrome can be distinguished from other vertebral segmental anomalies such as spondylocostal dysostosis (SCDO1; MIM# 277300) by the type of vertebral defects, lack of rib abnormities, and the presence of carpal and tarsal synostosis [Mitter et al, 2008]. At least 33 SCT cases have been reported, in which the majority of cases show autosomalrecessive inheritance (MIM# 272460) [Isidor et al, 2008;Mitter et al, 2008;Patil et al, 2009;Assir and Waseem, 2012;Singh et al, 2013;Carapito et al, 2016]. Recessive SCT are caused by homozygosity or compound heterozygosity of nonsense or truncating mutations in FLNB encoding filamin B (FLNB; MIM# 603381) [Krakow et al, 2004;Farrington-Rock et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

et al. 2017

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Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recessive and autosomal-dominant SCT, respectively. We present a family with two patients suffering from autosomal-recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs. Whole-exome sequencing revealed a novel p.S2542Lfs 82 (c.7621dup) frameshift mutation in FLNB. This frameshift mutation lies in the C-terminal-most domain involved in FLNB dimerization and resulted in a 20-residue elongation, with complete familial segregation and absence in 376 normal controls. The mutant p.S2542Lfs 82 FLNB demonstrated a complete loss of ability to form a functional dimer in transiently transfected HEK293T cells. The p.S2542Lfs 82 mutation also led to significantly reduced protein levels and accumulation of the mutant protein in the Golgi apparatus. This is the first identified mutation in the dimerization domain of FLNB. This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB.

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Section: Introductionmentioning

confidence: 99%

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

et al. 2017

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“…The stature was estimated in the field according to the suggestions of Mallegni & Rubini () and in the laboratory with the Trotter & Gleser method () suggested by Buikstra & Ubelaker (). The screening of the traces of SCT was estimated according the suggestions of Farrington‐Rock et al ., , Patil et al ., and Brunetti‐Pierri et al ., .…”

Section: Methodsmentioning

confidence: 92%

“…Today, only about 30 cases worldwide are known in the medical literature. SCT is characterised by the fusion of vertebrae and of the carpal and tarsal bones (the latter may be bilateral or monolateral), although the tarsal effect can be absent in some cases (Patil et al ., ). The vertebral anomalies are responsible for congenital scoliosis.…”

Section: Introductionmentioning

confidence: 97%

The Earliest Case of Spondylocarpotarsal Synostosis Syndrome (Roman Age—2nd Century ad)

Rubini

Cerroni²,

Zaio³

2011

Intl J of Osteoarchaeology

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Spondylocarpotarsal synostosis syndrome (SCT) is a rare genetic disease. It was described for the first time during the 1970s. The most relevant pathognomonic skeletal changes are vertebral malsegmentation and the fusion of the carpal and tarsal bones. This last implication can be absent in some cases. We have investigated a case of SCT in a female of about 40-45years of age, dated to the 2nd century AD. This discovery is important for two reasons: first, SCT is not a recent disease but rather one with a very long history; second, the clinical picture of the skeletal changes (malsegmentation of some elements of the spine, fusion of carpal bones) seems not to have varied in the last 2000 years. Furthermore, the age of the Roman female shows medium-long survival in patients suffering from SCT, even in the absence of medical treatment. Copyright

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“…Cervical vertebral spontaneous fusion is a rare cervical congenital malformation [6]–[8]. Most cases of cervical congenital malformations are reported as Klippel–Feil syndrome.…”

Section: Discussionmentioning

confidence: 99%

Cervical Spondylotic Myelopathy Caused by Single-Level Vertebral Spontaneous Fusion

Yan

Hou

et al. 2014

PLoS ONE

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PurposeTo evaluate the clinical features, imaging characteristics, surgical options, and clinical outcomes of patients with Cervical spondylotic myelopathy (CSM) caused by single-level vertebral spontaneous fusion (SLVSF).MethodsSixteen consecutive patients with SLVSF who underwent anterior surgery were included in this study and 38 patients with CSM caused by spinal degeneration were enrolled as a control group. Demographic features, clinical presentations, imaging characteristics, surgery strategy, Nurick grade, Japanese Orthopedic Association (JOA) score, neck disability index (NDI), and complications were evaluated.ResultsThere were significant differences between the two groups in the mean age and the average duration of neck pain. There was no significant difference between the two groups in length of cervical spine. In the SLVSF group, 13 patients had upper segment translational instability and none had rotational instability. Pre- and postoperative Nurick grades were 2.94±0.77 and 2.19±0.54 in the SLVSF group, and 2.97±0.72 and 2.16±0.64 in the control group. Pre- and postoperative JOA scores were 9.25±2.02 and 11.69±1.62 in the SLVSF group, and 9.87±2.58 and 12.53±2.69 in the control group. Pre- and postoperative NDI values were 28.5±7.75 and 15.56±5.51 in the SLVSF group, and 16±6.13 and 11.29±4.58 in the control group.ConclusionsPatients with SLVSF have necks of normal lengths, which can be used to distinguish this disorder from Klippel-Feil syndrome. There are three main features of SLVSF: (1) hypoplasia at both of the spontaneously fused vertebral bodies; (2) a major pathological feature of translational instability of the upper vertebra to the fused level; and (3) severe neck pain. Anterior surgery has a good therapeutic effect for patients with cervical SLVSF.

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Spondylocarpotarsal synostosis: A rare case of vertebral segmentation defect

Cited by 4 publications

References 9 publications

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies

The Earliest Case of Spondylocarpotarsal Synostosis Syndrome (Roman Age—2nd Century ad)

Cervical Spondylotic Myelopathy Caused by Single-Level Vertebral Spontaneous Fusion

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