Ellis-Van Creveld Dysplasia

This rare skeletal dysplasia was first described in 1940 by Richard W. Ellis and Simon van Creveld who coined the term “Chondro-ectodermal dysplasia” to illustrate the main features of this condition: ectodermal involvement (skin, hair and nails) and chondrodysplasia (cartilage and bone anomalies) (2).

 
How Ellis-Van Creveld Dysplasia Is Inherited

Ellis-van Creveld is transmitted in an autosomal recessive mode. The parents are of average stature and must both be carriers of the mutation.

 
Causes of Ellis-Van Creveld Dysplasia

Recent studies have found that mutations in two nonhomologous genes, positioned in a head-to-head configuration along chromosome 4 (4p16), are responsible for EVC (3).

 
Physical Characteristics

Ellis-Van Creveld Dysplasia is most common in the Amish people of Pennsylvania and the indigenous people of Western Australia. The incidence is estimated at 1 per 60,000 live births. More than 200 cases of EVC have now been reported (3).

Face & Skull
  • Dental abnormalities: natal teeth, partial or pseudocleft in the middle upper lip, small teeth, and delayed eruption
Trunk, Chest, & Spine:
  • No significant trunk abnormalities
  • No spinal malformation
  • Occasional short thorax at birth
  • Short and narrow rib cage
Arms & Legs:
What are the X-ray characteristics?

The radiographic features of EVC patients include progressive distal shortening of the long bones, with metaphyseal broadening. In infancy, pelvic dysplasia is common, along with low iliac wings and downward projections at the medial and lateral aspects of the acetabula. Pelvis configuration will normalize by childhood. Delayed ossification of the upper lateral portions of the proximal tibia will cause knock-knee. In young childhood, the epiphyseal ossification center is adjacent to the middle portion of the tibial metaphysis. Hypoplasia of the lateral epiphyses also occurs. The carpals are malformed, with fusion of the capitate and hamate. The middle phalanges are short and broad; hypoplasia of the distal phalanges is typical.

 
Making the Diagnosis

The condition can be diagnosed in the first trimester of pregnancy through an ultrasound scan looking for extra fingers or toes, cardiac defects, abnormalities of the kidneys and under-developed limbs. It has to be distinguished from related disorders such as Jeune Syndrome and the short-rib polydactyly syndromes. This could be possible only after birth. Radiographic features might also help with the diagnosis.

 
Musculoskeletal Problems
Polydactyly

Polydactyly will oftentimes require surgery so that the extra digit(s) can be removed. The surgery may be a soft-tissue or bony procedure, depending upon the underlying pathology.

Progressive Genu Valgus

Progressive genu valgus will require careful follow-up in the longer term, usually at 6-month to yearly intervals. Supporting the knee in a corrective knee brace is the initial management, but bracing does not obviate the need for surgery.

Surgery is advised for angulations greater than 20 degrees (less if the deformity is progressive in a young child). The bony deformity is corrected by an osteotomy and the leg is placed in an external fixator until the osteotomy heals. Recurrence over time is common and several corrective procedures may be necessary during childhood for severe deformities.

In the older child nearing the end of growth, an alternative strategy is to slow down growth of the inner aspect of the tibia by a metal staple or stop growth completely by surgical removal of the growth plate. Elevating the under-developed part of the tibia has been performed in selected cases to restore knee alignment.

 
Problems Elsewhere in the Body
Congenital Heart Defects

Congenital heart defects are seen in about 60% of children. The most common are an atrial septal defect, a single atrium, and a ventricular septal defect. Assessment by a pediatric cardiologist soon after birth is strongly recommended. Cardiac surgery may be needed to correct the abnormalities. Nearly 50% of babies born with EVC will die due to cardiorespiratory complications.

Genitourinary Anomalies

Genitourinary anomalies include poor development of the penis and kidneys. Evaluation by a paediatric urologist is advised.

Teeth

Teeth will appear early and may even be present at birth. They are small, peg-shaped and poorly formed. EVC patients are predisposed to dental cavities. Several abnormalities around the lips and gums have been described. Children with EVC would benefit from early referral to an orthodontist for surgical or prosthetic management of dental problems.

 
What to Look For

Congenital heart disease is common, therefore cardiologist consultation
is recommended.

Occasionally, abnormalities such as mental retardation, renal anomalies, Dandy-Walker cysts, hydrocephaly, situs inversus, and heterotopic masses of grey matter, have been reported.

Finally, generally all skeletal dysplasias warrant multidisciplinary attention. Regular assessment by an orthopedist, geneticist, pediatrician,
dentist, neurologist, and physical therapist will provide the most comprehensive treatment.

 
References
  1. Jones, Kenneth L. Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier Saunders. 2006.
  2. Scott, Charles I. Dwarfism. Clinical Symposium, 1988; 40(1):17-18.
  3. Spranger, Jurgen W. Brill, Paula W. Poznanski, Andrew. Bone Dysplasias: An Atlas of Genetic Disorder of Skeletal Development. Oxford: Oxford University Press. 2002.

Trusted Insights from Nemours' KidsHealth

Relaxation Techniques for Children With Serious Illness

Managing Stress

Nothing about serious illness is easy, but one of the hardest things for parents may be watching their child struggle with pain, stress, and anxiety.

Despite what we may sometimes tell ourselves, stress is not just "in our heads." The stress response — also called the flight-or-fight response — causes a rush of adrenaline and other hormones that trigger physical changes in the body: your heart races, your blood pressure rises, you breathe faster, your digestion slows, and your pupils dilate. Chronic stress takes a toll on the body as well as the mind.

The good news is that using a variety of mind-body relaxation techniques can help short-circuit the flight-or-fight response. Relaxation techniques not only can lessen a child's physical symptoms, they can also help him or her (and you!) regain a sense of control and confidence over a situation, helping everyone find moments of peace amid the chaos and isolation of illness and medical treatment.

Techniques That Can Help

These techniques are designed for parents and kids to practice together. Most can be done in a few minutes wherever you are, whether that's a quiet place or a crowded hospital, without any special tools.

However, it's important to note that these techniques should be used as a complement to conventional medical treatment for anxiety and pain, and not as a replacement — doing so could do a child more harm than good.

If your child is suffering from anxiety or pain, ask your doctor what can be done to help. And always check with your health care team to make sure that your child's symptoms are related to stress and not a different medical problem.

Focused Breathing

Pain and stress can leave a child breathing faster and shallower, or even holding his or her breath — all of which can actually keep the stress response going and heighten the intensity of pain. Paying attention to breathing can help calm the mind.

Try this exercise with your child:

  • Step 1. Sit or lie comfortably and put one hand on your stomach, the other on your chest.
  • Step 2. Close your eyes and try to relax all of your muscles, one by one, from the tips of your toes to the top of your head. Don't forget to relax the muscles in your face, neck, and jaw; you may be storing a lot of tension there.
  • Step 3. Breathe deeply and regularly for several minutes— and try to make your stomach (abdomen) rise and fall, not only your chest. This will help you deepen your breath.
  • Step 4. Pay attention to each breath; try to turn all your thoughts to each inhale … exhale. As you breathe out, imagine the tension leaving your body with the breath.

At first, it may be difficult for you and your child to focus on breathing. Distracting thoughts are normal — but rather than following a thought and letting it consume you, try to let it drift out of your mind, like a balloon.

Relaxation Response Method

This technique asks a person to focus on breathing and quiet the mind to create a sense of calmness and well-being. And by repeating a word, phrase, or prayer during the exercise, the mind is able to stay focused more easily. When practicing this, it's normal for thoughts to pop into the mind. Tell your child to disregard them and just focus on the word or phrase he or she is repeating.

Resembling an Eastern form of meditation, this technique — called the relaxation response — was popularized and put into Western practice in the 1970s by Herbert Benson, MD. To elicit the relaxation response, follow Steps 1-4 above, and then:

  • Step 5. Pick a focus word, phrase, sound, or prayer such as "om," "one," or "peace."
  • Step 6. As you breathe, say the focus word silently to yourself as you exhale.
  • Step 7. Continue for 5 or 10 minutes, ideally building up to 10 to 20 minutes for each session.
  • Step 8. When you're finished, do not stand up immediately. Continue sitting quietly for a bit, letting other thoughts back into your mind. Open your eyes, but stay sitting for another minute before getting up.

When practicing, go at your own pace. Don't feel like you have to achieve a deep level of relaxation right away. Often, feelings of calmness and well-being are felt later on or at times of crisis.

To achieve ongoing results, try to practice the technique with your child once or twice daily, but not within 2 hours after eating, as digestion can interfere with the relaxation response. Some people find that the best time to meditate is first thing in the morning, before breakfast.

Guided Imagery

A growing body of medical research suggests that imagery also can help lessen pain and anxiety, and promote positive feelings. In fact, studies have found that people who practice guided imagery during chemotherapy feel more relaxed and positive about their chemo experience than those who don't use the technique.

Guided imagery (also called "visualization") often works best when a person starts with a few minutes of focused breathing. Here's how it works: With eyes closed, imagine a safe place or a location you once visited that brought a feeling of contentment and joy. Hold on to the image of that place for a while, trying to picture all the sights and sounds:

  • What does the ground beneath you feel like? Is it weather warm or a chilly? Is there a breeze?
  • Are there any animal noises in the distance, or nature sounds (like running water) that you could hear?

Getting as descriptive as possible about this safe place will help you and your child get "into" the moment and feel relaxed.

Some children find this exercise more helpful when they are "guided" by a parent, another live instructor, or with a guided imagery CD or DVD.

As with meditation, distracting thoughts will float into the mind as you practice guided imagery. Acknowledge these thoughts, and then let them drift away while you move your attention back to the images in your mind and sounds you hear.

Music Therapy

Just as pleasant images can calm the mind and soothe the body, so can music. Kids who undergo music therapy — the research-based use of music to lift moods and promote mental and physical well-being — have been found to have lowered heart rates and blood pressure, and improved anxiety.

Many hospitals provide a licensed, trained music therapist who can work individually with kids to develop a customized treatment plan that engages them in:

  • active play that includes listening to music
  • dancing or moving the body to music
  • playing instruments or improvising on them
  • singing along

To participate in music therapy, your child doesn't need to read music or have any special musical talents. And the best part is that you can practice music therapy at home. By choosing music that both you and your child enjoy — and setting aside time to listen, dance, sing, or experiment with an instrument together — you, too, can teach your child the joys of music.

Energy Therapy

Energy therapy is based on the theory of bioelectromagnetics, the belief that the electrical currents in all living organisms produce magnetic energy fields that extend beyond the body. Proponents of this therapy believe that gentle, light touch or above-the-body hand movements can redirect energy to places where it's needed in an effort to bring energy into "balance" or harmony.

While the principles of energy therapy have not been scientifically proven, practitioners say it promotes healing and helps kids feel more relaxed, less anxious, and less bothered by pain.

Many different types of energy therapy are practiced all over the world, including therapeutic touch, healing touch, Reiki and Johrei (from Japan), and Qi gong (from China).

In the United States, some hospitals offer therapeutic or healing touch as a complement to standard treatments for anxiety, pain, or other medical problems.

And some nurses, doctors, or other health care providers are certified in healing touch techniques. They may be able to offer this service to your child, or teach you how to practice healing touch at home.

Massage Therapy

If you like to take a more hands-on approach to soothing and comforting your child, you might prefer massage. The benefits of massage are well known, offering muscle relaxation and increased blood flow and oxygen to body parts to help alleviate stress and ease pain.

But some types of massage are not recommended for certain types of conditions, so check with your doctor first before massaging your child or taking your child to a massage therapist.

The most common forms of massage used in complementary medicine include:

  • Swedish massage. Therapists use their hands to move muscles and joints with long, gliding strokes, tapping movements, friction (made by moving hands quickly) and kneading. Massage oils may be used, so be sure to tell the therapist about any allergies or sensitivities to ingredients that your child may have.
  • Deep-tissue massage. Many of the same techniques are used as in Swedish massage, only therapists apply more pressure to specific areas, concentrating on the deeper layers of muscles and connective tissue.
  • Trigger-point massage. Like deep-tissue massage, this technique massages deeper layers of tissue, focusing on what therapists call trigger points ("knots") within the connective tissue or muscles that are usually painful when pressed.

Many hospitals have massage therapists on hand to offer massages to both patients and their family members, so find out if massage therapy is offered at your hospital.

Learn More

These are just a few of the many methods designed to help patients and families cope with pain and anxiety. Many people find that yoga, stretching, or light, gentle exercise also helps to quiet the mind and sooth the body.

To learn more about relaxation techniques, talk to your child's health care team.

Reviewed by: Larissa Hirsch, MD, and Walle Adams-Gerdts, RN, BA, HTCP/I
Date reviewed: April 2011