Hypochondroplasia kid: he is in a book

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

Friday, July 27, 2012

he is in a book

We went to Shriners today to see the genetisit Dr. Harold Chen. First of all it was his birthday. His 79th birthday to be precise. He is a genious and so kind. It was just a check up we have every two years. He has written three volumes called "The atlas of Genetic Diagnosis and Counsling" And guess who made it into the book?? Coleman!! I have a couple pictures from our visit too.I will have to down load them later

4 comments:

A pathologically information hungry motherJuly 28, 2012 at 5:16 AM
Great pic, and it also answers my question, I have asked you about which mutation he had before, and I don't think you knew at the time :-). What does Dr. Chen think about his growth hormone treatment and progress? We will see endo in Sept and will likely start treatment when Fi is about 2...
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UnknownAugust 6, 2012 at 12:08 PM
Hi, my nephew has same disorder, he lives in Pakistan , he is 8 months old and he was born premature, 32 weeks ,he was 3 pounds and now he is 9 pounds , not sure about his length but he still wears size newborn , my sister is worried and we want to apply for her and baby USA visa, may be she can get some cure for his son, just want to ask u that where u live and where u take ur son to his doctor ? Please help, thanks, Farah
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KristenOctober 12, 2012 at 1:40 PM
I live in Haughton, la and my geneticist is in Shriner in Shreeveport, la. My endocrinologist is dr. Flint in laffiette la
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