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Apert Syndrome

Published on Nov 18, 2015

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1.

APERT SYNDROME

BY: KALEB AND BLAINE
2.

ONE OF THE EFFECTS IS

THE ABNORMAL GROWTH OF THE SKULL SUCH AS A HIGH FORE HEAD
3.

ANOTHER AFFECT IS

CHILDREN WITH APERT SYNDROME HAVE A %50 CHANCE TO LIVE
4.

THERE ARE NO TREATMENTS FOR APERT SYNDROM

BUT YOU CAN HAVE PLASTIC SURGERY DONE TO FIX THE ABNORMAL CONNECTIONS
5.

ONE SYMPTOM

THE DEFECTIVE GENE IN APERT SYNDROME IS BONES FUSING CAUSES YOUR SKULL BONES TO FUSE TOGETHER
6.

ANOTHER SYPTOM

THE BRAIN CONTUES GROW IN THE ABNORMAL SKULL, PUTTING PRESSURE ON THE BONES AND SKULL AND FACE.
7.

THE ABNORMAL SKULL AND FACIAL GROWTH IN APERT SYNDROME PRODUCES ITS MAIN SIGNS AND SYMPTOMS

  • A head that is long, wth a high forehead
  • Wide-set, bulding eyes, often with poorly-closing eyelds
  • A sunken middle face
8.

OTHER APERT SYNDROME SYMPTOMS ALSO RESULT FROM THE ABNORMAL SKULL GROWTH

  • Poor intellectual development (in some children with apert syndrome )
  • Obstructive sleep apnea
  • Repeated ear or sinus infections
  • Hearing loss
9.

APERT SYNDROME

CAUSES ABNORMAL FUSION OF THE BONES OF THE HANDS AND FEET
10.

CAUSES OF APERT SYNDROME

APERT SYNDROME IS CAUSES BY A RARE MUTATION IN A SINGLE GENE
11.

ANOTHER CAUSE

THIS MUTATED IS NORMALY FOR GUIDING TO JOIN TOGETHER DURING DEVOLPMENT
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ANOTHER CAUSE

IN ALMOST ALL CASES, THE APERT SYNDROME MUTATION CAN BE RANDOM
13.

ANOTHER CAUSE

ONE IN 65,000 BABIES IS BORN WITH APERT SYNDROME
14.

DIAGNOSIS

DOCTERS OFTEN SUSPECTED APERT SYNDROME OR ANOTHER CRANIOSYNOSTISIS AT THE BABIES BIRTH
15.

ANOTHER DIAGNOSIS

GENITIC TESTING CAN USUALLY IDENTITY APERT SYNDROME OR ANOTHER CAUSE OF ADNORMAL SKULL FORMATION
16.

HOW TO INHERIT APERT SYNDROME

APERT SYNDROME IS INHERITED IN AN AUTOSOMAL DOMIT PATTERN, WHOCH MEANS ONE COPY OF THE ALTERD GENE IS OFFICENT TO CAUSE THE DISORDER
17.

IT CAN ALSO BE INHERITED

ALMOST ALL CASES OF APERT SYNDROME RESULT FROM NEW MUTATIONS IN THE GENE.
18.

HISTORY OF APERT SYNDROME

THIS SKULL AND DIGIT INFORMATION WAS DECTECTED 20TH CENTURY
19.

ANOTHER HISTORY FACT

IT BELONGS TO A OF CONDITIONS KNOWN AS CRANIOSYNOSTOSES IN WHICH THE SKULL BONES DO NOT FUSE TOGETHER
20.

ANOTHER HISTORY FACT

SOME PATIENTS HAVE MILD DISEASE THAT THEY WOULD BE CONSIDERED NORMAL BY MANY PEOPLE
21.

WHO DISCOVERED APERT SYNDROME

A FRENCH PHYSICIAN NAMED EUGENE APERT DISCOVERED APERT SYNDROME IN 1906
22.

THE FIRST PRENATAL DIAGNOSIS

WAS COMPLETED IN 1982 BY FETOSCOPY WHICH IS A TEST THAT DR LEONARD DID
23.

THE FIRST SUCCESSFUL GENETIC ANALYSIS OF THE MUTATION RESPONSIBLE

WAS COMPLETED IN 1998 BY CHANG ET AL
24.

THE FIRST DESCRIPTION OF APERT SYNDROME

WAS COMPLETED IN 1894 BY WHARTON
25.

THE FIRST, SECOND TRIMESTER DIAGNOSIS

WAS MADE IN 1991 BY NARAYAN AND SCOTT.
26.

DOCTOR BY

KALEB SCHIMKE
27.

GENETICIST BY

BLAINE COHEN
28.

FIRST 4 OF HISTORIAN BY

BLAINE COHEN
29.

LAST 4 OF HISTORIAN BY

KALEB SCHIMKE
30.

WORK CITED

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