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This activity is funded by an independent medical education grant from BioMarin Pharmaceutical Inc. This activity is jointly provided by USF Health and touchIME.

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touchMDT Navigating diagnosis, monitoring, and early treatment in achondroplasia: Multidisciplinary insights from specialist obstetricians and paediatricians

A multidisciplinary team and a patient advocate discuss the importance of diagnosis, monitoring, and early treatment in achondroplasia

 Overview & Learning Objectives
Patient with achondroplasia
  • MDT management of achondroplasia
    Paediatric endocrinologist, maternal foetal medicine specialist and paediatrician
    Play Arrow Watch Video

    A paediatric endocrinologist, a maternal foetal medicine specialist and a paediatrician discuss the multidisciplinary management of achondroplasia, including the structure and role of the multidisciplinary team, and navigating referral pathways for effective patient care.

    Time: 12:40
    Prof. Mohnike, Prof. Blakemore, Prof. Legare
    Play Arrow Watch Video
  • Early recognition of achondroplasia
    Paediatrician, maternal foetal medicine specialist, paediatric endocrinologist and patient advocate
    Play Arrow Watch Video

    A paediatrician, a maternal foetal medicine specialist, a paediatric endocrinologist and a patient advocate explore the importance of early recognition of achondroplasia in reducing the risk of paediatric complications, including the route to diagnosis, the consequences of delayed diagnosis, and age-stratified management of the condition.

    Time: 14:49
    Prof. Legare, Prof. Blakemore, Prof. Mohnike, Carly Kutner
    Play Arrow Watch Video
  • Monitoring and early treatment initiation in achondroplasia
    Paediatrician, paediatric endocrinologist and patient advocate
    Play Arrow Watch Video

    A paediatrician, a paediatric endocrinologist and a patient advocate explore the importance of monitoring and early treatment initiation in achondroplasia to reduce the risk of paediatric complications, with a focus on growth monitoring, bone age, and mobility/functionality assessments.

    Time: 12:12
    Prof. Legare, Prof. Mohnike, Carly Kutner
    Play Arrow Watch Video
  • Impact of pharmacotherapies for achondroplasia
    Maternal foetal medicine specialist, paediatric endocrinologist, paediatrician and patient advocate
    Play Arrow Watch Video

    A maternal foetal medicine specialist, a paediatric endocrinologist, a paediatrician and a patient advocate provide their insights on the impact of pharmacotherapies for achondroplasia, and discuss their real-world observations as well as the latest clinical evidence.

    Time: 17:44
    Prof. Blakemore, Prof. Mohnike, Prof. Legare, Carly Kutner
    Play Arrow Watch Video

Expert Spotlight

Prof. Dr. med. Klaus Mohnike
Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Prof. Karin Blakemore
Johns Hopkins University School of Medicine, Baltimore, MD, USA
Prof. Janet Legare
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Prof. Klaus Mohnike, Prof. Karin Blakemore and Prof. Janet Legare discuss the multidisciplinary management of achondroplasia, including the importance of appropriate specialist referrals.

Get the Audio Version

Tutorial

These icons indicate there is something to be interacted with. Click it when you see it.

Poll

What is your role in the skeletal dysplasias/achondroplasia multidisciplinary team?

Submit your answer to see the results

Obstetrician, neonatologist or maternal foetal medicine specialist
   
Paediatrician or primary care physician
   
Endocrinologist or paediatric endocrinologist
   
Genetic counsellor, medical geneticist or other specialist physician
   
Paediatric endocrinologist, maternal foetal medicine specialist and paediatrician
Get the Audio Version
MDT management of achondroplasia
Time: 12:40
Prof. Mohnike, Prof. Blakemore, Prof. Legare

A paediatric endocrinologist, a maternal foetal medicine specialist and a paediatrician discuss the multidisciplinary management of achondroplasia, including the structure and role of the multidisciplinary team, and navigating referral pathways for effective patient care.

Watch Next
Paediatrician, maternal foetal medicine specialist, paediatric endocrinologist and patient advocate

Early recognition of achondroplasia

Watch Now

Expert Spotlight

Prof. Janet Legare
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
Prof. Karin Blakemore
Johns Hopkins University School of Medicine, Baltimore, MD, USA
Prof. Dr. med. Klaus Mohnike
Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Ms Carly Kutner
Freehold, NJ, USA

Prof. Janet Legare, Prof. Karin Blakemore, Prof. Klaus Mohnike and Ms Carly Kutner explore the importance of early recognition of achondroplasia in reducing the risk of paediatric complications.

Get the Audio Version

Tutorial

These icons indicate there is something to be interacted with. Click it when you see it.

Poll

When are the children with achondroplasia that you manage most commonly diagnosed?

Submit your answer to see the results

Prenatally
   
At birth
   
≤1 month after birth
   
>1 month after birth
   
Paediatrician, maternal foetal medicine specialist, paediatric endocrinologist and patient advocate
Get the Audio Version
Early recognition of achondroplasia
Time: 14:49
Prof. Legare, Prof. Blakemore, Prof. Mohnike, Carly Kutner

A paediatrician, a maternal foetal medicine specialist, a paediatric endocrinologist and a patient advocate explore the importance of early recognition of achondroplasia in reducing the risk of paediatric complications, including the route to diagnosis, the consequences of delayed diagnosis, and age-stratified management of the condition.

Watch Next
Paediatrician, paediatric endocrinologist and patient advocate

Monitoring and early treatment initiation in achondroplasia

Watch Now

Expert Spotlight

Prof. Janet Legare
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
Prof. Dr. med. Klaus Mohnike
Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Ms Carly Kutner
Freehold, NJ, USA

Prof. Janet Legare, Prof. Klaus Mohnike and Ms Carly Kutner explore the importance of monitoring and early treatment initiation in achondroplasia to reduce the risk of paediatric complications.

Get the Audio Version

Tutorial

These icons indicate there is something to be interacted with. Click it when you see it.

Poll

How do you monitor growth in the children with achondroplasia that you manage?

Submit your answer to see the results

General age- and sex-specific growth charts
   
General achondroplasia-specific growth charts
   
Region-specific, achondroplasia-specific growth charts
   
Other
   
Paediatrician, paediatric endocrinologist and patient advocate
Get the Audio Version
Monitoring and early treatment initiation in achondroplasia
Time: 12:12
Prof. Legare, Prof. Mohnike, Carly Kutner

A paediatrician, a paediatric endocrinologist and a patient advocate explore the importance of monitoring and early treatment initiation in achondroplasia to reduce the risk of paediatric complications, with a focus on growth monitoring, bone age, and mobility/functionality assessments.

Watch Next
Maternal foetal medicine specialist, paediatric endocrinologist, paediatrician and patient advocate

Impact of pharmacotherapies for achondroplasia

Watch Now

Expert Spotlight

Prof. Karin Blakemore
Johns Hopkins University School of Medicine, Baltimore, MD, USA
Prof. Dr. med. Klaus Mohnike
Otto-von-Guericke University Magdeburg, Magdeburg, Germany
Prof. Janet Legare
University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
Ms Carly Kutner
Freehold, NJ, USA

Prof. Karin Blakemore, Prof. Klaus Mohnike, Prof. Janet Legare and Ms Carly Kutner provide their insights on the impact of pharmacotherapies for achondroplasia.

 

Get the Audio Version

Tutorial

These icons indicate there is something to be interacted with. Click it when you see it.

Poll

In patients on pharmacotherapy that you manage, when was this most often initiated?

Submit your answer to see the results

At <4 months old
   
At 4–24 months old
   
At 2–5 years old
   
At >5 years old
   
Maternal foetal medicine specialist, paediatric endocrinologist, paediatrician and patient advocate
Get the Audio Version
Impact of pharmacotherapies for achondroplasia
Time: 17:44
Prof. Blakemore, Prof. Mohnike, Prof. Legare, Carly Kutner

A maternal foetal medicine specialist, a paediatric endocrinologist, a paediatrician and a patient advocate provide their insights on the impact of pharmacotherapies for achondroplasia, and discuss their real-world observations as well as the latest clinical evidence.

Watch Next
Paediatric endocrinologist, maternal foetal medicine specialist and paediatrician

MDT management of achondroplasia

Watch Now
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Overview & Learning Objectives
Overview

In this activity, a multidisciplinary team of specialist obstetricians and paediatricians, plus a parent of a child with achondroplasia, share their perspectives on achondroplasia management and coordinating specialist referrals; the importance of early recognition and treatment initiation; and the impact of pharmacotherapies in children with the condition.

This activity is jointly provided by USF Health and touchIME.

Target Audience

This activity has been designed to meet the educational needs of endocrinologists, genetic counsellors, gynaecologists, medical geneticists, neonatologists, obstetricians, orthopaedic specialists, paediatricians and primary care physicians involved in the diagnosis and management of children with achondroplasia.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Prof. Karin Blakemore has no interests/relationships or affiliations to disclose in relation to this activity.

Prof. Janet Legare discloses: Grants/research support and Speaker’s Bureau fees from BioMarin Pharmaceutical Inc. (all relationships terminated).

Prof. Dr. med. Klaus Mohnike discloses: Advisory board/ panel fees from BioMarin Pharmaceutical Inc., Novo Nordisk and QED Therapeutics. Consultancy fees from BioMarin Pharmaceutical Inc. and Novo Nordisk. Grants/research support from> BioMarin Pharmaceutical Inc.

Ms Carly Kutner has no interests/relationships or affiliations to disclose in relation to this activity.

Content reviewer

Kaitlyn E. Rechenberg, PhD, MPH, APRN has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Contributors

Sola Neunie has no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu 

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 1.25 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).

Advanced Practice Providers

Physician Assistants may claim a maximum of 1.25 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 27 June 2024. Date credits expire: 27 June 2025.

If you have any questions regarding credit please contact cpdsupport@usf.edu

Learning Objectives
  • Evaluate the importance of multidisciplinary management and appropriate specialist referrals in supporting individualized clinical outcomes in achondroplasia
  • Recognize the need for early initiation of effective long-term treatment in people living with achondroplasia
  • Formulate strategies to support guideline-based multidisciplinary management of achondroplasia, integrating the latest advances in pharmacologic treatment
Faculty & Disclosures
Prof. Karin Blakemore

Johns Hopkins University School of Medicine, Baltimore, MD, USA

Prof. Karin Blakemore is the director of prenatal genetics and a professor in the Department of Gynecology and Obstetrics and the McKusick/Nathans Institute of Genetic Medicine. She served for many years as director of maternal-foetal medicine (MFM) and of the MFM Fellowship Program at Johns Hopkins. read more

Prof. Blakemore completed her residency in obstetrics and gynaecology at New York University Medical Center, a fellowship in human genetics at Yale University School of Medicine, and a fellowship in MFM at Washington University School of Medicine.

Her areas of clinical and research expertise include prenatal diagnosis of, and screening for, foetal genetic abnormalities and conditions, in utero foetal treatment strategies and in utero haematopoietic stem cell transplantation. In addition, she has expertise in alloimmunization; haematologic and connective tissue disorders in pregnancy; foetal skeletal dysplasias; genetic predisposition to early preeclampsia and haemolysis; elevated liver enzymes and low platelets (HELLP) syndrome; and normal and abnormal labour.

Prof. Karin Blakemore has no interests/relationships or affiliations to disclose in relation to this activity.
Prof. Janet Legare

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Prof. Janet Legare is a professor in the Department of Pediatrics, Division of Genetics and Metabolism at the University of Wisconsin. She is head of the Midwest Regional Bone Dysplasia Clinic and serves on the medical advisory board for Little People of America. read more

Prof. Legare’s clinical expertise encompasses diagnosis, management, and ongoing care for children with various types of skeletal dysplasia, as well as other neurological and functional genetic conditions. Her research focuses on paediatric conditions, particularly achondroplasia and skeletal dysplasia, and aims to elucidate the natural history of these conditions, assess treatment options and enhance patient care.

She is a site principal investigator for multiple clinical trials for achondroplasia. Prof. Legare actively engages in various professional societies, including the International Skeletal Dysplasia Society, Society for Pediatric Research and American College of Medical Genetics.

Prof. Janet Legare discloses: Grants/research support and Speaker’s Bureau fees from BioMarin Pharmaceutical Inc. (all relationships terminated).
Prof. Dr. med. Klaus Mohnike

Otto-von-Guericke University Magdeburg, Magdeburg, Germany

Prof. Dr. med. Klaus Mohnike is a paediatric endocrinologist at the Children’s Hospital of Otto-von-Guericke University Magdeburg (OvGU) in Germany. He is coordinator of the Centre of Excellence ‘COllaborative Alliance for Congenital Hyperinsulinism’ (COACH) and represents the OvGU in the European Reference Networks (ERN) Endo-ERN, Metab-ERN and ERN-BOND. read more

Prof. Mohnike’s clinical expertise and research activities are mainly related to bone dysplasia and congenital hyperinsulinism. He specializes in metabolic and endocrine diseases and is a spokesperson for the Central German Competence Network for Rare Diseases (MKSE). Over the last 20 years, he has developed inter-institutional registries for various rare diseases such as bone dysplasia, congenital hyperinsulinism and congenital adrenal hyperplasia to create tools for quality assurance in medicine. Prof. Mohnike has published more than 135 scientific papers in international journals, and book chapters.

Prof. Dr. med. Klaus Mohnike discloses: Advisory board/ panel fees from BioMarin Pharmaceutical Inc., Novo Nordisk and QED Therapeutics. Consultancy fees from BioMarin Pharmaceutical Inc. and Novo Nordisk. Grants/research support from BioMarin Pharmaceutical Inc.
Ms Carly Kutner

Freehold, NJ, USA

Ms Carly Kutner is a marketing professional with two decades of experience. She lives in New Jersey, USA with her husband Evan, two daughters and labradoodle, Cooper. read more

Beyond the world of marketing, Carly is deeply passionate about advocating for dwarfism awareness and fostering inclusion. This journey began 7 years ago when her daughter Mira, who was born with achondroplasia, inspired her to champion this cause. Through her advocacy work and blog, TheJoyofMira.com, Carly aims to spread awareness, support and joy to families navigating similar paths.

When not immersed in her role in marketing or spreading awareness, Carly enjoys cherishing quality time with her family, capturing precious moments through photography and spending time at the beach.

Ms Carly Kutner has no interests/relationships or affiliations to disclose in relation to this activity.
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This activity is funded by:

An independent medical education grant from BioMarin Pharmaceutical Inc.
This activity is jointly provided by USF Health and touchIME.

The information provided by this CME activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgement of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CME to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

This content is intended for healthcare professionals.

Date of original release: 27 June 2024. Date credits expire: 27 June 2025.

This content is for healthcare professionals outside of the UK only. Please confirm that you are a healthcare professional.

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Question 1/4
According to international consensus guideline recommendations, which of the following referrals should be scheduled as a priority in the first year of life for neonates with achondroplasia?
 Correct

International consensus guidelines on the management of achondroplasia highlight that in the first year of life, many clinics specializing in the management of skeletal dysplasias perform neuroradiological evaluation by MRI, as well as sleep studies, to screen for foramen magnum stenosis that may lead to cervicomedullary compression. Close monitoring with MRI and sleep studies are recommended at least up to the age of 3 years, as clinical suspicion remains even in the absence of findings. 

Abbreviation
MRI, magnetic resonance imaging.

Reference
Savarirayan R, et al. Nat Rev Endocrinol. 2022;18:173–89.

Question 2/4
You are discussing the management of skeletal dysplasias with a new resident physician on your team. They ask you how best to support outcomes for people living with achondroplasia. Based on international consensus guidelines, which one of these key factors would you highlight to your colleague?

MDT, multidisciplinary team.
 Correct

Recommendation 25 of the current international consensus guidelines on the management of achondroplasia state that all children with achondroplasia should receive regular follow-up with a multidisciplinary team led by a healthcare professional with expertise in achondroplasia. Furthermore, close monitoring in the first 2 years of life is highlighted as particularly important.

Reference
Savarirayan R, et al. Nat Rev Endocrinol. 2022;18:173–89

Question 3/4
You are managing a 6-year-old girl with achondroplasia. At her latest follow-up appointment, her parents tell you that their general practitioner/family physician informed them that their daughter is obese, based on BMI calculations performed in the clinic. What would you consider next in the management of this child?

BMI, body mass index.
Correct

International consensus guidelines on the management of achondroplasia recommend that parents of infants with achondroplasia should be provided with specific charts and a growth parameters register (height, weight and head circumference) for management follow-up.1 Due to the combination of extreme short legs and a near-normal trunk length, BMI values can become greatly distorted in achondroplasia populations when average stature charts and measures are used. The perception of being overweight and obese might, therefore, be increased in people with achondroplasia compared with people of normal stature. To address this, achondroplasia-specific charts and measures have been developed.2

Abbreviation
BMI, body mass index.

References

  1. Savarirayan R, et al. Nat Rev Endocrinol. 2022;18:173–89.
  2. Neumeyer L, et al. Am J Med Genet A. 2021;185:401–12.

 

Question 4/4
Which of these is the most important patient characteristic to consider when determining suitability for achondroplasia pharmacotherapy to best support clinical outcomes?

FGFR3, fibroblast growth factor 3.
 Correct

Indications for approved pharmacotherapies to manage achondroplasia in paediatric patients (USA) and children aged >4 months (Europe) require ongoing bone growth by confirming the presence of open epiphyses.1,2 Trials evaluating novel C-natriuretic peptide analogues have been conducted in prepubertal cohorts prior to epiphyseal closure, excluding participants with injury or disease that may affect the epiphyses.3,4

References

  1. FDA. Vosoritide PI. 2023. Available at: https://rb.gy/rptcl0 (accessed 30 May 2024).
  2. EMA. Vosoritide SPC. 2023. Available at: https://bit.ly/3UXCvJs (accessed 30 May 2024).
  3. Savarirayan R, et al. eClinicalMedicine. 2023;65:102258.
  4. Clinicaltrials.gov. NCT04085523. Available at: https://clinicaltrials.gov/study/NCT04085523 (accessed 29 May 2024).
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