Growth Disorders in Children: Causes and Solutions

Pediatric Growth Abnormalities

Dear Dr.
Jian,
My son is a sixth grader and stands at 179.5 cm tall.
While many parents would be pleased with such height, he has several concerning issues that I would like your advice on regarding management or further medical evaluation.
1.
He is prone to fractures; for instance, he suffered a foot fracture when a girl stepped on him, and he fractured his hand after falling.
Each injury required about a month of treatment with a cast, but the orthopedic doctor could not determine if there were any underlying abnormalities.
2.
He struggles to open his mouth wide, with a maximum distance of less than 2 cm.
Although this does not significantly impact his daily life, five doctors across three hospitals have been unable to identify the cause.
The only medical recommendation has been surgery if necessary.
3.
Due to the aforementioned issues and his unusually tall stature, we took him to a pediatric clinic for various growth and development assessments.
The results indicated that his bone age is estimated to be 13 years and 4 months, while he is only 11 years and 5 months old.
An MRI revealed mild hydrocephalus, but other findings were within normal limits.
4.
A doctor has evaluated the hydrocephalus and deemed it to be within a normal range, so there is no need for concern.
5.
After more than six months of medical consultations without conclusive results, we have decided to give up on that front.
During the summer, I read medical literature and discovered that abnormal parathyroid hormone secretion could lead to various unreasonable physiological phenomena in children.
In addition to the issues mentioned, he has always needed a lot of sleep and is easily fatigued, often unable to meet the physical demands of school days.
He frequently comes home exhausted and needs to rest before completing his homework in the morning.
However, the literature only briefly touched on this topic.
I kindly request your medical advice or guidance on how to pursue further information regarding this matter.
I would greatly appreciate your assistance.
Thank you!

Xinji de mama, 40~49 year old female. Ask Date: 2008/10/08

Dr. Jian Yingxiu reply Rare Disease

In this situation, in addition to parathyroid issues, it may be necessary to consider structural abnormalities of the bones or other congenital metabolic disorders.
It is recommended that you bring your previous test results and promptly visit a genetic counseling clinic at a medical center to seek assistance from a pediatric geneticist or a pediatric metabolic endocrinologist.
Thank you.

Reply Date: 2008/10/08

More Info

Understanding growth disorders in children can be quite complex, especially when multiple symptoms are present. Your concerns about your son, who is unusually tall for his age but experiences frequent fractures, limited jaw opening, and fatigue, warrant a thorough evaluation. Here’s a comprehensive approach to understanding and addressing these issues.

1. Frequent Fractures
Frequent fractures in children can be indicative of underlying conditions such as osteogenesis imperfecta (brittle bone disease), metabolic bone disorders, or even nutritional deficiencies like vitamin D deficiency leading to rickets. Given that your son has sustained fractures from relatively minor trauma, it would be prudent to investigate further. A pediatric orthopedic specialist can conduct a detailed assessment, including bone density tests, to determine if there is an underlying bone health issue.

2. Limited Jaw Opening
The limited ability to open the mouth could be due to several factors, including temporomandibular joint (TMJ) disorders, muscular issues, or structural abnormalities. Since you have consulted multiple specialists without a definitive diagnosis, it may be beneficial to seek a referral to a pediatric dentist or an oral and maxillofacial surgeon who specializes in jaw disorders. They can perform a more focused examination and possibly imaging studies to assess the TMJ and surrounding structures.

3. Height and Bone Age Discrepancy
Your son’s height of 179.5 cm and a bone age of 13 years at the age of 11 years and 5 months suggest that he is experiencing advanced skeletal maturation. This can sometimes be associated with conditions like precocious puberty or hormonal imbalances. It is essential to evaluate his growth hormone levels, sex hormone levels, and possibly conduct a genetic evaluation to rule out any syndromic causes of tall stature, such as Marfan syndrome or Klinefelter syndrome.

4. Mild Hydrocephalus
The MRI findings of mild hydrocephalus that have been deemed normal by specialists should be monitored, but they may not be directly related to the other symptoms. Hydrocephalus can sometimes lead to increased intracranial pressure, which can cause fatigue and other neurological symptoms. Regular follow-ups with a pediatric neurologist can help ensure that any changes in his condition are promptly addressed.

5. Fatigue and Sleep Patterns
The excessive fatigue and need for prolonged sleep could be linked to several factors, including sleep disorders like sleep apnea, metabolic conditions, or even psychological factors such as anxiety or depression. A sleep study might be warranted to rule out obstructive sleep apnea, especially if there are signs of snoring or breathing irregularities during sleep. Additionally, a comprehensive metabolic panel could help identify any underlying metabolic disorders.

6. Potential Endocrine Issues
Your mention of parathyroid hormone abnormalities is insightful. Conditions affecting the parathyroid glands can lead to imbalances in calcium and phosphorus metabolism, which can impact bone health and overall energy levels. A referral to a pediatric endocrinologist would be beneficial to evaluate his hormone levels, including parathyroid hormone, calcium, and vitamin D levels.

7. Next Steps
Given the complexity of your son’s symptoms, a multidisciplinary approach may be the most effective. This could involve:
- Pediatric Orthopedics: For bone health evaluation.

- Oral and Maxillofacial Surgery: For jaw opening issues.

- Pediatric Endocrinology: For growth and hormonal assessments.

- Pediatric Neurology: For monitoring hydrocephalus and fatigue.

Conclusion
It is understandable to feel overwhelmed when navigating your child’s health concerns. Keeping a detailed record of symptoms, medical visits, and any treatments tried will be helpful for future consultations. Engaging with specialists who can collaborate on your son’s care will provide a more comprehensive understanding and management plan. Don’t hesitate to seek second opinions if you feel that your concerns are not being adequately addressed. Your proactive approach is crucial in ensuring your son receives the best possible care.

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