Sillence Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME, Brachydactyly and distal symphalangism syndrome, Brachydactyly and distal symphalangism syndrome (disorder)

+ [4]

Introduction

Syndrome that resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant.

100 Clinical Results associated with Sillence Syndrome

100 Translational Medicine associated with Sillence Syndrome

0 Patents (Medical) associated with Sillence Syndrome

Literatures (Medical) associated with Sillence Syndrome

06 May 2024·Strategies in Trauma and Limb Reconstruction

Management of Combined Fracture Neck of Femur and Femoral Deformity in Osteogenesis Imperfecta Patient: A Case Report

Author: Khaled, Mohamed ; Elbaseet, Hesham Mohamed ; Ibrahim, AbdelKhalek Hafez ; Oyoun, Nariman Abol ; Abdelzaher, Mohamed Abdelhady

Osteogenesis imperfecta (OI) patients usually sustain repeated fractures from trivial trauma and also have skeletal deformities that affect walking. The bone fragility and repeated fractures produce deformities of the long bones especially in femur and tibia. However, neck of femur (NOF) fractures in OI are rarely described. A 11-year-old male patient known to have OI (Sillence type IV) sustained a NOF fracture after a fall. He also had proximal femoral anterolateral bowing proximally and over an intramedullary (IM) rod inserted 4 years back. He was treated by corrective osteotomy and stabilisation with an IM telescoping nail for the deformed femur and the Wagner technique for the NOF fracture. One year after operation, the patient had recovered satisfactory functional outcome with union of the NOF fracture and correction of the femoral deformity.ConclusionThe method of the Wagner technique can achieve stable fixation for femoral neck fractures and introduces the least interference with concurrent telescoping nail insertion.How to cite this articleElbaseet HM, Ibrahim AH, Abol Oyoun N, et al. Management of Combined Fracture Neck of Femur and Femoral Deformity in Osteogenesis Imperfecta Patient: A Case Report. Strategies Trauma Limb Reconstr 2024;19(1):56-59.

01 Jun 2022·Bone Reports

Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature

Author: Bobyn, Amy ; Jetha, Mary ; Grimbly, Chelsey ; Frohlich, Breanne ; Jaremko, Jacob L ; Caluseriu, Oana ; Campbell, Sandra

PURPOSEMetaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry FKBP10 mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury.CASESA 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous FKBP10 variants.LITERATURE REVIEW AND RESULTSWe performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages.CONCLUSIONMetaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted.

01 Jun 2021·Bone Reports

Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy

Article

Author: Maguire, Kathleen ; Zhu, Hui ; Wang, Jamie ; Flynn, Evelyn ; Swami, Srilatha ; Wu, Joy Y ; Shapiro, Frederic

Diaphyseal long bone cortical tissue from 30 patients with lethal perinatal Sillence II and progressively deforming Sillence III osteogenesis imperfecta (OI) has been studied at multiple levels of structural resolution. Interpretation in the context of woven to lamellar bone formation by mesenchymal osteoblasts (MOBLs) and surface osteoblasts (SOBLs) respectively demonstrates lamellar on woven bone synthesis as an obligate self-assembly mechanism and bone synthesis following the normal developmental pattern but showing variable delay in maturation caused by structurally abnormal or insufficient amounts of collagen matrix. The more severe the variant of OI is, the greater the persistence of woven bone and the more immature the structural pattern; the pattern shifts to a structurally stronger lamellar arrangement once a threshold accumulation for an adequate scaffold of woven bone has been reached. Woven bone alone characterizes lethal perinatal variants; variable amounts of woven and lamellar bone occur in progressively deforming variants; and lamellar bone increasingly forms rudimentary and then partially compacted osteons not reaching full compaction. At differing levels of microscopic resolution: lamellar bone is characterized by short, obliquely oriented lamellae with a mosaic appearance in progressively deforming forms; polarization defines tissue conformations and localizes initiation of lamellar formation; ultrastructure of bone forming cells shows markedly dilated rough endoplasmic reticulum (RER) and prominent Golgi bodies with disorganized cisternae and swollen dispersed tubules and vesicles, structural indications of storage disorder/stress responses and mitochondrial swelling in cells with massively dilated RER indicating apoptosis; ultrastructural matrix assessments in woven bone show randomly oriented individual fibrils but also short pericellular bundles of parallel oriented fibrils positioned obliquely and oriented randomly to one another and in lamellar bone show unidirectional fibrils that deviate at slight angles to adjacent bundles and obliquely oriented fibril groups consistent with twisted plywood fibril organization. Histomorphometric indices, designed specifically to document woven and lamellar conformations in normal and OI bone, establish ratios for: i) cell area/total area X 100 indicating the percentage of an area occupied by cells (cellularity index) and ii) total area/number of cells (pericellular matrix domains). Woven bone is more cellular than lamellar bone and OI bone is more cellular than normal bone, but these findings occur in a highly specific fashion with values (high to low) encompassing OI woven, normal woven, OI lamellar and normal lamellar conformations. Conversely, for the total area/number of cells ratio, pericellular matrix accumulations in OI woven are smallest and normal lamellar largest. Since genotype-phenotype correlation is not definitive, interposing histologic/structural analysis allowing for a genotype-histopathologic-phenotype correlation will greatly enhance understanding and clinical management of OI.

Analysis

Perform a panoramic analysis of this field.

view full example data

Chat with Hiro

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Sillence Syndrome

Basic Info

Related

Analysis