Turner Syndrome Help Please

Sammo · Aug 12, 2009

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Hi All,

I've just seen a patient with a paeds physio who is currently 2 years old and sufferes from Turner Syndrome (http://en.wikipedia.org/wiki/Turner_syndrome)

The patient is very under developed. Has the physical appearance of a child about 9-12 months. She i can crawl and interacts well but doesn't try to stand or cruise at the moment.

o/e of her lower extremity she has very narrow, under developed calcaneum, and has a soft tissue equinus of the L ankle. I am only just able to get her plantigrade before she pulls her leg back and glares at me. If supported, the child can weightbear but doesn't like it.. the physio reports making her cry if the child is weightbearing for more than a few seconds. The foot has tonnes of movement in the frontal plane, and when supported standing the feet just pronate until the lateral border of the foot is off the ground.

The Physio's biggest concern at the moment is getting the child standing, and she says if the patient is standing it will help stimulate the calcaneum to grow (?! I can see her logic but I really don't believe this..).

My feelings and impression is that she is not developed enough to stand and one of the characteristics of the illness itself is MSK underdevelopment.

Also, I'm not sure if the patient is on any growth hormone at the moment.

Any help or advice would be greatly received...

I have the patient coming in next week (at the same time she is coming in for other appointments). So can feedback more then..

Kind regards,

Sam

drsarbes · Aug 12, 2009

Hi Sam:

There was an old thread re: Turner's, maybe you could find it and get some info.

My own experience is very limited at that age. Unless I'm mistaken there are varying genetic types of Turner's (at least two) and one is slightly worse than the other.

You can expect late motor development and if this patient is not developed enough to cruise or ambulate than I would not try to force the issue.

Hopefully others here have more experience with this.

Good luck

Steve

Admin2 · Aug 13, 2009

drsarbes said: ↑

There was an old thread re: Turner's, maybe you could find it and get some info.
Click to expand...

I vaguely recall this, but searched everywhere and can not find it. I did just update the thread on: Klippel Tenaunay Weber Syndrome with a published case report.

Admin2 · Aug 13, 2009

Turner syndrome

Chromosomal disorder in which a female is partially or completely missing an X chromosome

Medical condition

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome (sex chromosome monosomy).^[2]^[6] Most people have two sex chromosomes (XX or XY). It only affects females.^[2]^[6] Signs and symptoms vary among those affected.^[1] Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.^[1] Typically, those affected do not develop menstrual periods or breasts without hormone treatment and are unable to have children without reproductive technology.^[1] Heart defects, diabetes, and hypothyroidism occur in the disorder more frequently than average.^[1] Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics.^[1] Vision and hearing problems also occur more often than average.^[7]
Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development.^[8]^[9] No environmental risks are known, and the mother's age does not play a role.^[8]^[10] While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells.^[6] The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism.^[7] In these cases the symptoms are usually fewer, and possibly none occur at all.^[11] Diagnosis is based on physical signs and genetic testing.^[3]
No cure for Turner syndrome is known.^[12] Treatment may help with symptoms.^[12] Human growth hormone injections during childhood may increase adult height.^[12] Estrogen replacement therapy can promote development of the breasts and hips.^[12] Medical care is often required to manage other health problems with which Turner syndrome is associated.^[12]
Turner syndrome occurs in between one in 2,000^[4] and one in 5,000 females at birth.^[5] All regions of the world and cultures are affected about equally.^[8] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes.^[7] American endocrinologist Henry Turner first described the condition in 1938.^[13] In 1964, it was determined to be due to a chromosomal abnormality.^[13]

^ ^a ^b ^c ^d ^e ^f ^g "What are the symptoms of Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 27 March 2015. Retrieved 15 March 2015.

^ ^a ^b ^c "Turner Syndrome: Overview". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 3 April 2013. Archived from the original on 2 April 2015. Retrieved 15 March 2015.

^ ^a ^b "How do health care providers diagnose Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.

^ ^a ^b Donaldson MD, Gault EJ, Tan KW, Dunger DB (June 2006). "Optimising management in Turner syndrome: from infancy to adult transfer". Archives of Disease in Childhood. 91 (6): 513–520. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725. Archived from the original on 7 March 2012.

^ ^a ^b Marino BS (2013). Blueprints pediatrics (sixth ed.). Philadelphia: Wolters Kluwer / Lippincott Williams & Wilkins. p. 319. ISBN 978-1-4511-1604-5. Archived from the original on 10 September 2017.

^ ^a ^b ^c "Turner Syndrome: Condition Information". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.

^ ^a ^b ^c Sybert VP, McCauley E (September 2004). "Turner's syndrome". The New England Journal of Medicine. 351 (12): 1227–1238. doi:10.1056/NEJMra030360. PMID 15371580.

^ ^a ^b ^c "How many people are affected or at risk?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.

^ "Turner syndrome". Genetics Home Reference. Retrieved 8 January 2020.

^ Cummings M (2015). Human Heredity: Principles and Issues. Cengage Learning. p. 161. ISBN 978-1-305-48067-4. Archived from the original on 10 September 2017.

^ "What causes Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 2 April 2015. Retrieved 15 March 2015.

^ ^a ^b ^c ^d ^e "What are common treatments for Turner syndrome?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 30 November 2012. Archived from the original on 29 March 2015. Retrieved 15 March 2015.

^ ^a ^b Kelly EB (2013). Encyclopedia of human genetics and disease. Santa Barbara, CA: Greenwood. p. 818. ISBN 978-0-313-38714-2. Archived from the original on 10 September 2017.

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mike weber · Aug 13, 2009

Hi Sam spoke to the wife about your case last night. She is a P & O or orthopedic engineer as they like to be called over here.

She has treated 1-2 with Turners syndrome. She used a standing frame to begin weight bearing and then moved to a walking frame after time. This was to reduce the load on the feet and legs and the patient progressed more of the natural body weight was allowed to load the feet.

So maybe get intouch with your local P & O

Hope this helps.

Michael Weber

shiralee · Aug 17, 2009

Hi Sam,
I've not had much experience with Turner's syndrome as a practising podiatrist, but my cousin's child has it and I have seen her progress (she is now 7yrs old). There can be great variation is presentation and development, and it does make a difference if they are on growth hormone. My cousin's child began using a walking frame (k walker) at about 2yrs of age, she was only crawling or wriggling on the floor before then. She didn't pull herself up and cruise at all. She had very low muscle tone and the growth hormone made a very large difference. She also had a very narrow calc, and still has. She used the frame for about 12 months before walking unaided. She was very unsteady on her feet after using the k walker, but has gradually improved, and has no ambulatory issues now at age 7. She also hated people touching her as a toddler and did alot of screaming at people! She did lots of work with physio's and OT's early on.
Some Turners syndrome kids have major issues with sensory input, they can just really hate having some part of them being touched, or hate the feeling of a particular texture or action. This could be an explanation for the child not wanting to put the foot down rather than not being capable of it. Unfortunately at 2yrs old they can't tell you that!
My cousin has given me a few contacts that she has found very good if you're interested:
The UK web site she says is excellent: www.tss.org.uk
The TS society of Australia: info@turnersyndrome.org.au
The Victorian TS assoc has a good website (don't have it on hand - try google)
The peadiatric physio she used at the Sunshine Coast Qld has had lots of experience with TS - Margie Scott pn (07) 54417617

Hope you can use some of this.

Shiralee

Craig Payne · Aug 17, 2009

shiralee said: ↑

She also hated people touching her as a toddler and did alot of screaming at people! She did lots of work with physio's and OT's early on.
Some Turners syndrome kids have major issues with sensory input, they can just really hate having some part of them being touched, or hate the feeling of a particular texture or action. This could be an explanation for the child not wanting to put the foot down rather than not being capable of it. Unfortunately at 2yrs old they can't tell you that!
Click to expand...

Tactile defensiveness ... where is Cylie when we need her?

Bug · Aug 17, 2009

Thanks Craig

I've got limited experience with Turners, but currently am also treating a little one in the same age group. As awful as it appears, your physio has got it right with this one, if she can crawl and interact then it is time to make the next progression. You really need her up and standing, the younger the better. It helps not only with foot posture, but the associated oedema from Turners and is imperative to get the social side of walking/standing as young as possible. The experiences in the early years are the building blocks for further years. Maybe suggest some splinting garments to help if she doesn't have the trunk stability yet.

I haven't overly noted sensory issues anymore so than a total avoidance of therapists touch them. When you look at the run of of serious issues these little girls have, therapists are associated with pain so I don't believe it is tactile defensiveness rather than therapist defensiveness. These kids are poked and prodded, things in their ears, tubes down their throats, blood tests galore. The ones I have seen mirror most kids with serious medical conditions. Like most little kids, make sure any touch is firm (never stroking or light patting unless they initiate it), only touch if and when necessary and decisive (show no fear).

This may be a case of teaching mum to massage, making an aquaplast splint for night or even pop on a soft cast for a week with the foot dorsiflexed to facilitate gastroc lengthening. Good luck!

Sammo · Aug 18, 2009

I'd like to thank everyone for their input on this case. I will endeavour to post an update soon to allow those who are interested to follow the case from my perspective.

Many thanks,

Sam Randall

NewsBot · Oct 27, 2011

The knee alignment and the foot arch in patients with Turner syndrome.
Trzcińska D, Olszewska E, Wiśniewski A, Milde K, Madej M.
Pediatr Endocrinol Diabetes Metab. 2011;17(3):138-144.

Introduction: It is established that patients with Turner syndrome (TS) have numerous defects of the skeletal system, including in the lower extremities structure. However, there are not enough studies in the literature about knee alignment and foot arches in girls and women with TS.

Aim of the study: Assessment of knees and feet in girls and women with TS. Material and methods: Sixty-two girls and women with TS were examined. The mean chronological age of the patients was 15.61±5.27 years, ranging from 6.36 to 27.04-years-old. All patients underwent physical examinations of their knees and feet. Additionally, almost 70% (n=42) underwent plantographic examinations and measurement of their heel angle and Clarke's angle. The formation of the foot in patients with TS was related to the reference values developed on the basis of studies of healthy girls (n=92). In women whose knee conditions were assessed only on the basis of a physical examination, a drawer test was performed each time to assess the stability of the knee ligament systems.

Results: In over 60% of patients with TS, incorrect knee alignment, primarily in the form of genu valgum (knock-knee), was diagnosed. At the same time, 60% of the patients tested only in physical examinations were diagnosed with knee ligament instabilities (positive drawer test). Physical examinations showing foot arch malformation - in equal proportion splay-foot and low-arched - were found in almost two-thirds of women with TS. However, on the basis of plantography, abnormalities in the longitudinal arch of the foot were diagnosed in 60% of patients with TS, and abnormalities in the transverse arch of the foot were diagnosed in 80% of patients with TS.

Conclusions: In patients with TS, the occurrence of the following is characteristic: 1. Genu valgum of knees and heels; 2. Frequent cases of abnormally formed longitudinal and transverse arches of the foot, with the longitudinal arch of the foot usually being reduced, while the transverse arch is excessively elevated; 3. Asymmetry involving a frequent occurrence of different types of abnormalities in the arches of the left and right foot, and the possible occurrence of normal knee alignment with an abnormal formation of the feet, or incorrect knee alignment with normal formation of the arches in both feet. The presence of the aforementioned disorders of knee alignment and foot arches authorizes us to recommend a routine assessment of posture, knee alignment, and the arch of the foot in all patients with Turner syndrome and, if irregularities are found, to direct patients for corrective treatment of the musculoskeletal system disorders.
Click to expand...

NewsBot · Jun 1, 2012

Evaluating the Biomechanics of the Pediatric Foot in Turner Syndrome
A Case Report
Stewart C. Morrison, Alexander Izod, and Ryan Mahaffey
J Am Podiatr Med Assoc 102(3): 259–263, 2012

Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted.
Click to expand...

Turner Syndrome Help Please

Sammo Active Member

drsarbes Well-Known Member

Admin2 Administrator Staff Member

Admin2 Administrator Staff Member

Turner syndrome

mike weber MVP

shiralee Member

Craig Payne Moderator

Bug Well-Known Member

Sammo Active Member

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NewsBot The Admin that posts the news.

Another new running shoe entering market - Turner

Advice for returner please...?

Returner to the forum

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Turner Syndrome Help Please

Sammo Active Member

drsarbes Well-Known Member

Admin2 Administrator Staff Member

Admin2 Administrator Staff Member

Turner syndrome

mike weber MVP

shiralee Member

Craig Payne Moderator

Bug Well-Known Member

Sammo Active Member

NewsBot The Admin that posts the news.

NewsBot The Admin that posts the news.

Another new running shoe entering market - Turner

Advice for returner please...?

Returner to the forum

Patellofemoral Pain Syndrome Is Associated With Chronic Disease and Allergies

Foot Pain in Leriche Syndrome

Bilateral Foot Pain in a Child With Crouzon Syndrome

Antiphospholipid Syndrome and the Foot

Share This Page

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