Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair

Chang, Ta Chen; Bauer, Mislen; Puerta, Herminia; Greenberg, Matthew; Cavuoto, Kara M.

doi:10.1016/j.jaapos.2017.07.216

Cited by 13 publications

(11 citation statements)

References 7 publications

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“…Most examined individuals with an SH3PXD2B or MMP14 mutation had a broad mouth, as well as one third of examined patients with an MMP2 mutation. Finally, thick lips and either a small or heavy mandible have been reported in most examined patients with an SH3PXD2B , MMP14 , or MMP2 mutation (Al Aqeel et al, ; Al Kaissi et al, ; Azzollini et al, ; Bader‐Meunier et al, ; Bendon et al, ; Bhavani et al, ; Borrone et al, ; Castberg et al, ; Chang et al, ; Eisenstein et al, ; Ekbote et al, ; Gok et al, ; Hamel et al, ; Iqbal et al, ; Jeong et al, ; Maas et al, ; Martignetti et al, ; Mégarbané et al, ; Phadke & Dalal, ; Pichler et al, ; Prapanpoch et al, ; Rouzier et al, ; Temtamy et al, ; Ter Haar et al, ; Tuysuz et al, ; Vanatka et al, ; Van Steensel et al, ; Wilson et al, ; Winchester et al, ; Zankl et al, ; Zankl et al, ; Zrhidri et al, ).…”

Section: Discussion and Reviewmentioning

confidence: 99%

“…Gingival hypertrophy has been reported in ≥50% of examined individuals with an SH3PXD2B , MMP14 , or MMP2 mutation (Table ). Delayed dentition, attributed to gingival hypertrophy, was less frequently reported (Al Aqeel et al, ; Bader‐Meunier et al, ; Bhavani et al, ; Borrone et al, ; Chang et al, ; Eisenstein et al, ; Ekbote et al, ; Martignetti et al, ; Mégarbané et al, ; Phadke & Dalal, ; Prapanpoch et al, ; Temtamy et al, ; Tuysuz et al, ; Van Steensel et al, ; Wilson et al, ; Winchester et al, ; Zankl et al, ).…”

Section: Discussion and Reviewmentioning

confidence: 99%

“…Ventricle septum defect and outflow tract anomalies have additionally been documented in patients with an SH3PXD2B mutation and are less frequent in individuals with an MMP2 mutation. These cardiac anomalies caused early childhood death of multiple patients (Al Kaissi et al, ; Azzollini et al, ; Bendon et al, ; Bhavani et al, ; Borrone et al, ; Castberg et al, ; Chang et al, ; Ekbote et al, ; Gok et al, ; Hamel et al, ; Iqbal et al, ; Maas et al, ; Mégarbané et al, ; Pichler et al, ; Temtamy et al, ; Ter Haar et al, ; Tuysuz et al, ; Van Steensel et al, ; Wilson et al, ; Zrhidri et al, ).…”

Section: Discussion and Reviewmentioning

confidence: 99%

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Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Vos

Wong

Welting

et al. 2019

American J of Med Genetics Pt A

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Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. These autosomal recessive syndromes are caused by homozygous mutation or deletion of respectively SH3PXD2B (SH3 and PX Domains 2B), MMP14 (matrix metalloproteinase 14), or MMP2. Here, we give an overview of the clinical features of 63 previously reported patients with an SH3PXD2B, MMP14, or MMP2 mutation, demonstrating considerable clinical overlap between FTHS, WS, and MONA. Interestingly, the protein products of SH3PXD2B, MMP14, and MMP2 directly cooperate in collagen remodeling. We review animal models for these three disorders that accurately reflect the major clinical features and likewise show significant phenotypical similarity with each other. Furthermore, they demonstrate that defective collagen remodeling is central in the underlying pathology. As such, we propose a nosological revision, placing these SH3PXD2B, MMP14, and MMP2 related syndromes in a novel "defective collagenremodelling spectrum (DECORS)". In our opinion, this revised nosology better reflects the central role for impaired collagen remodeling, a potential target for pharmaceutical intervention. K E Y W O R D SECM remodeling, MMP14, MMP2, podosomes, SH3PXD2B

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Section: Discussion and Reviewmentioning

confidence: 99%

Section: Discussion and Reviewmentioning

confidence: 99%

Section: Discussion and Reviewmentioning

confidence: 99%

See 1 more Smart Citation

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Vos

Wong

Welting

et al. 2019

American J of Med Genetics Pt A

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“…Besides, the reported phenotype-genotype correlations have shown inconsistent and inconclusive findings (2,3,7,12,19). Some authors include Ter Haar syndrome (FTHS [MIM # 249420]) which is caused by homozygous mutation in the TKS4 gene among the MONA syndrome spectrum disorders (20)(21)(22)(23)(24). The autosomal dominant rare multicentric carpotarsal osteolysis syndrome (MCTO [MIM # 166300]) with or without nephropathy is another important differential diagnosis of MONA syndrome (25)(26)(27)(28)(29)(30).…”

Section: Introductionmentioning

confidence: 99%

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations

Elsebaie¹,

Mansour²,

Elsayed³

et al. 2021

Preprint

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Objectives: Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. Methods: We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Results: Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Conclusion: Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.

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“…Besides, the reported phenotype-genotype correlations have shown inconsistent and inconclusive findings ( de Vos et al, 2019 ; Bhavani et al, 2016 ; Kröger et al, 2019 ; Rouzier et al, 2006 ; Azzollini et al, 2014 ). Some authors include Ter Haar syndrome (FTHS [MIM # 249420 ]) which is caused by homozygous mutation in the TKS4 gene among the MONA syndrome spectrum disorders ( Chang et al, 2017 ; Bendon et al, 2012 ; Iqbal et al, 2010 ; van Steensel et al, 2007 ; Borrone et al, 1993 ). The autosomal dominant rare multicentric carpotarsal osteolysis syndrome (MCTO [MIM # 166300 ]) with or without nephropathy is another important differential diagnosis of MONA syndrome ( Li et al, 2020 ; Park et al, 2018 ; Upadia et al, 2018 ; Stajkovska et al, 2018 ; Mumm et al, 2014 ; Zankl et al, 2012 ).…”

Section: Introductionmentioning

confidence: 99%

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

et al. 2021

View full text Add to dashboard Cite

Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.

show abstract

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair

Cited by 13 publications

References 7 publications

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

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