Multiple synostosis syndrome: Study of a large Brazilian kindred

da-Silva, Elias O.; Filho, Sílvio M.; Albuquerque, Sílvio C. de

doi:10.1002/ajmg.1320180208

Cited by 16 publications

(9 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations leading to increased BMP14 (also known as GDF5 for growth differentiation factor) (Da-Silva et al, 1984) signaling may cause SYM1 or SYNS1 (Lehmann et al, 2007), and are not associated with hearing loss (Potti et al, 2011). Expression of BMP14 was recognized in the annular stapedial ligament, and absence of BMP14 expression in the middle ear ossicles was suggested to lead to failure of inossicular joint formation (Hwang and Wu, 2008).…”

Section: Discussionmentioning

confidence: 97%

“…These syndromes were first reported by Cushing (Cushing, 1915) and Vesell (Vessel, 1960). In 1990, similar overlapping clinical syndromes were recognized as stapes ankylosis with broad thumbs and toes (SABTT), which is also known as TeunisseneCremer syndrome (Teunissen and Cremers, 1990), proximal symphalangism (SYM1) (Hurvitz et al, 1985), multiple synostoses syndrome 1(SYNS1) (Da-Silva et al, 1984), tarsal-carpal coalition syndrome (TCC) and brachydactyly type B2 (BDB2). These syndromes were thought to be non-identical at first, but direct sequence analysis of genes showed that mutations in NOG induce these syndromes, which are typical phenotypes of NOG mutations.…”

Section: Introductionmentioning

confidence: 96%

See 1 more Smart Citation

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

Ishino

Takeno

Hirakawa

2015

European Journal of Medical Genetics

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 96%

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

Ishino

Takeno

Hirakawa

2015

European Journal of Medical Genetics

View full text Add to dashboard Cite

“…SYM1, SYNS1, and SYNS2 syndromes are characterized by multiple joint fusions that are restricted to proximal interphalangeal joints of the hands and feet and carpal and tarsal bones; SYNS1 and SYNS2 patients additionally display multiple joint fusions in vertebrae and the hip (da-Silva et al 1984;Gaal et al 1987;Gong et al 1999;Takahashi et al 2001;Mangino et al 2002). SYM1 is caused by gain-of-function mutations in GDF5 that strongly increase ligand affinity for the BMPRIA receptor and result in loss of binding specificity for BMPRIB (Nickel et al 2005;Seemann et al 2005).…”

Section: Digit Malformations Caused By Disruption Of Tgf-b and Bmp Simentioning

confidence: 99%

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

MacFarlane

Haupt

Dietz

et al. 2017

Cold Spring Harb Perspect Biol

View full text Add to dashboard Cite

The transforming growth factor b (TGF-b) family of signaling molecules, which includes TGF-bs, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and differentiation factors (GDFs), has important functions in all cells and tissues, including soft connective tissues and the skeleton. Specific TGF-b family members play different roles in these tissues, and their activities are often balanced with those of other TGF-b family members and by interactions with other signaling pathways. Perturbations in TGF-b family pathways are associated with numerous human diseases with prominent involvement of the skeletal and cardiovascular systems. This review focuses on the role of this family of signaling molecules in the pathologies of connective tissues that manifest in rare genetic syndromes (e.g., syndromic presentations of thoracic aortic aneurysm), as well as in more common disorders (e.g., osteoarthritis and osteoporosis). Many of these diseases are caused by or result in pathological alterations of the complex relationship between the TGF-b family of signaling mediators and the extracellular matrix in connective tissues.T he transforming growth factor b (TGF-b) family of cytokines comprises the three TGF-b proteins (TGF-b1, TGF-b2, and TGFb3) and related growth and differentiation factors such as activins, inhibins, bone morphogenic proteins (BMPs), and growth and differentiation factors (GDFs). These molecules play critical roles both in normal development and in several pathological conditions, including inflammation, fibrosis, and cancer (reviewed in Li and Flavell 2006;Gordon and Blobe 2008;Ikushima and Miyazono 2010). This review focuses on the role of these proteins in development and homeostasis of the skeleton and other connective tissues (summarized in Fig. 1) and on the diseases that ensue when these pathways are altered. Aberrant signaling in these pathways has been associated with common connective 6 These authors contributed equally to this work.

show abstract

“…In this type of symphalangism, synostosis appears in multiple joints. For this reason, some authors stated that this type of symphalangism should be included in the entity of multiple synostosis (Maroteaux et al, 1972;Nixon, 1978;da-Silva et al, 1984).…”

Section: Discussionmentioning

confidence: 99%

Clinical Features of Congenital Ankylosis of the Digital Joints of the Hand

Ogino

Takahara²,

Kato

et al. 1993

Congenital Anomalies

View full text Add to dashboard Cite

Clinical features and roentgenographic findings of 37 patients (65 hands) with congenital ankylosis of the digital joints, including symphalangism and other types of congenital ankylosis of the joints, were analyzed. Congenital ankylosis of the digital joints was divided into four types according to the clinical features as follows; Type A (typical symphalangism), 13 cases, Type B (symphalangism without associated anomalies), 6 cases, Type C (symphalangism associated with hypoplasia of the affected digit), 10 cases and Type D (symphalangism as a part of syndrome), 8 cases. Roentgenographic findings of the affected joints were divided into 4 types, such as normal type (Type I), narrow type (Type 2), flat type (Type 3) and bony ankylosis (Type 4). There seems to be 4 types of joint development in congenital ankylosis of the digital joints. In Types 1 and 2, the joint space of the affected joint and the secondary ossification center looks normal. The joint seems to develop normally in Type 1, but the condyle of the affected joint becomes flat in Type 2. In Type 3, the joint space is narrow in infancy, the secondary ossification center fuses with the proximally located phalanx and finally the affected joint develops bony ankylosis. In Type 4, there is osseous fusion of the affected joint at birth. Key words: hand, joint, symphalangism, tarsal coalition, carpal coalition

show abstract

Multiple synostosis syndrome: Study of a large Brazilian kindred

Cited by 16 publications

References 17 publications

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes

TGF-β Family Signaling in Connective Tissue and Skeletal Diseases

Clinical Features of Congenital Ankylosis of the Digital Joints of the Hand

Contact Info

Product

Resources

About