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متلازمة ألبرايت McCune-Albright’s Syndrome


متلازمة ألبرايت McCune-Albright’s Syndrome

المعلومة

Polyostotic fibrous dysplasia, precocious puberty, café au lait spots on skin ,and short stature:occuring in very young girls

خلل تنسج ليفي متعدد العظام ، بلوغ مبكر ، بقع قهوة بحليب بالجلد ، قامة قصيرة : تحدث عند الفتيات الصغيرات .

المرجع

Arthur S. Schneider , Philip A. Szanto - BRS Pathology - 3rd edition

dr.msh's picture
by
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Nice

DAM's picture
DAM


شكراً....

Fouad's picture
Fouad
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Look what we have here:

An operation to save a life and someone humanity

MIAMI - The plan had been to remove only part of the large growth distending Marlie Casseus' upper face and leave the rest for future surgeries, but the operation went so well that doctors just kept going.

Marie Casseus before surgery

By the time they had tied off the last of about 2,500 stitches, surgeons had opened the 14-year-old Haitian girl's face like a book and excised 9 pounds of jelly-like fibrous tissue, bone fragments, teeth and fluid, doctors reported Friday.

With titanium mesh, they constructed a new framework for her facial features, which, lacking the support of the underlying growth, would have collapsed into an empty cavity.

Surgeons, who began the operation early Wednesday and completed it nearly a day later, formed an upper lip, reduced the size of her overstretched mouth by 70 percent and - having been surprised to find her nasal septum intact - reopened her crushed nostrils with plastic "trumpets."

She lost 40 percent of her blood during surgery at the University of Miami/Jackson Memorial Medical Center's Holtz Children's Hospital, and received six units of replacement blood.

After surgery she looks like the picture below

Marlie has McCune-Albright syndrome, a genetic condition that includes the uneven bone growth of polysostic fibrous dysplasia, and endocrine abnormalities.

The condition affects much of her bone structure and could return to her face, doctors cautioned.

She appeared to be growing normally for the first few years of her life, but by age 9, the mass had so distorted her face that she quit school.

By the time she came to Miami 10 weeks ago, she could barely breathe.

McCune Albright Syndrome :

McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders); abnormalities in the glands that regulate the body’s rate of growth, its sexual development, and certain other metabolic functions (multiple endocrine dysfunction). Depending on the number and location of the skeletal abnormalities, mobility may be impaired, as well as vision and/or hearing, and the individual may experience substantial pain. Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (precocious puberty).

McCune-Albright Syndrome is the result of a genetic change (mutation) that occurs randomly, for no apparent reason (sporadic). In individuals with the disorder, this sporadic genetic mutation is present in only some of the body's cells (mosaic pattern). The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation. This mutation occurs after fertilization (postzygotic somatic mutation). It is not inherited from the parents.

The range of severity of the disorder is very broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age.

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Resources

MAGIC Foundation for Children's Growth

http://www.kwabs.com/interactive//index.php?automodule=blog&blogid=1&showentry=2

mbs2380's picture
mbs2380
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oh my God,
thanx mbs

DAM's picture
DAM


thank u very much mbs ... really impressive!

dr.msh's picture
dr.msh
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waaaw Mbs what a nice!!

moonberg's picture
moonberg
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very thanx mbs.....so great

Fouad's picture
Fouad
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MANY THANX Razz

qusei

Quote:
By the time they had tied off the last of about 2,500 stitches, surgeons had opened the 14-year-old Haitian girl's face like a book and excised 9 pounds of jelly-like fibrous tissue, bone fragments, teeth and fluid, doctors reported Friday.

Sad

mbs2380's picture
mbs2380
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really impressiveExclamation

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horizons
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