Beyond Achondroplasia

Growing together with Clara

April 15, 2016
by inesp.alves
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Achondroplasia Leaflets – Guidance for parents and health care professionals

Here are presented two leaflets for achondroplasia developed by recognized institutions.   The Manchester Centre for genomic medicine developed leaflets for achondroplasia that can be of a good help for the follow up of children, with several information and also specific … Continue reading

March 20, 2016
by inesp.alves
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Hearing disturbance in achondroplasia

“Achondroplasia has a variety of head and neck manifestations. The otolaryngologic complications include respiratory manifestations as a result of upper airway obstruction and frequent otitis media which may be accompanied by hearing loss and delayed speech”. Bilateral Ossiculoplasty in 1 Case … Continue reading

June 8, 2015
by inesp.alves
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The cranial “domino” in achondroplasia

Excerpt from the book: “Human achondroplasia, a multidisciplinary approach”  Benedetto Nicoletti, Elio Ascani, Victor A. McKusick, Shona C. Dryburgh, Springer Science & Business Media, 06/12/2012 – 514 pages “The craniofacies in achondroplasia is typical and produced by decrease in the growth … Continue reading

May 2, 2015
by inesp.alves
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Orthodontics and dental management in achondroplasia

Dental management in achondroplasia is a subject that I consider quite relevant, although few things have been published about this theme. Orthodontics and dentofacial orthopedics can cause speech and respiratory alterations and pathology. While “general” dentists can provide orthodontic treatment along with … Continue reading

April 3, 2015
by inesp.alves
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iPS cell technology for achondroplasia

A cell is the basic structural, functional, and biological unit of all known living organisms. Cells are the smallest unit of life that can replicate independently, almost as if a human person was like an enormous puzzle, made of 100 … Continue reading

March 21, 2015
by inesp.alves
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Waiting pays off

Since September we lived with a new short-term goal: solve the hematoma problem. It have been quite strange months, almost like living in a limbo, trying to do our best to prevent new falls and head bumps. It was hard. … Continue reading

March 10, 2015
by inesp.alves
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Elbow deformities in achondroplasia

Clara has a reduced elbow extension and I started doing research about the elbow´s anatomy in achondroplasia and if there could be any physiotherapy approach to improve the elbow extension. Until the moment, I haven´t found any. I found this guideline: Achondroplasia (0 to … Continue reading

February 19, 2015
by inesp.alves
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A silent risk in limb lengthening surgery – Fat embolism

Adipocytes, also known as fat cells, are the cells that primarily compose adipose tissue, specialized in storing energy as fat. Bone marrow is the flexible tissue in the interior of long bones. The two types of bone marrow are “red marrow”, which … Continue reading

February 5, 2015
by inesp.alves
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How can sleeping position influence obstructive sleep apnea

There are many positions a person can adopt to sleep. This article will make the approach to back and stomach sleep positions (supine and prone). “In 1992, the American Academy of Pediatrics released a statement recommending that all healthy infants be … Continue reading

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