Go Back   SuggestADoctor.com > Cayce JEHAIMI MD
 


"Novel Intervening Sequence Mutation at the 5

Cayce JEHAIMI
Cayce JEHAIMI MD
Florida, Fort Myers
Endocrinology, Diabetes, & Metabolism
Registered Site MemberHas 1 suggestionsAddress AvailablePhone Numbers AvailableHas 6 ArticlesHas Professional VideosPersonal Photo AvailableCV AvailableHas special expertise in certain sicknessHas published Books & ArticlesPersonal Info AvailableHas Personal Website
Article Details
* Date : 05-09-2011 - 05:57 AM (4707 days ago),

* Characters : 1138, Words : 158, Size : 1.11 Kb.
Testimonials For Cayce JEHAIMI MD by our Site Visitors:
Highly recommend Dr.Jehaimi.
(Jennifer, Patient, 05-09-2011)

All Suggestions For Cayce JEHAIMI MD
"Novel Intervening Sequence Mutation at the 5

We describe a novel mutation of the SOX9 gene not associated with sex reversal.Skeletal anomalies at birth associated with any degree of genital ambiguity should warrant SOX9 gene analysis.Although our case report did not display sex reversal,the presence of hypospadias in association with abnormal long bone structures and Pierre-Robin sequence was enough evidence to suspect SOX9 gene defect. Campomelic Dysplasia (CD) is an autosomal dominant disorder typically characterized by bowing of the long bones,Pierre-Robin sequence,cleft palate and absent corpus collosum among others (1,2).The majority of affected male infants (up to 75%) will also have sex reversal.The gene causing CD,SOX9,has been mapped to chromosome 17(17q24.3-q25.1).Clinical case:XY determined male infant born at 35wk gestation to healthy nonconsanguineous parents with birth weight of 2.3kg (25%) and length of 38cm(<10%).Soon after birth,absent corpus collosum and olfactory bulb hypoplasia were noted on brain MRI in addition to cleft palate,pretibial skin dimples, femora bowing and grade I hypospadias.
Journal/Publication - The Endocrine Society, June 2010

Return to Doctor's Page
Email This Doctor

To Quote this article, you should add: :

All rights of Article ""Novel Intervening Sequence Mutation at the 5" belongs to Cayce JEHAIMI MD and it is published at SuggestADoctor.com (http://www.suggestadoctor.com) Health Articles Library.

With this notice, you can quote reasonable amount of text from this article but you have to get permission from its author to republish or redistribute it fully.

Some other Health Articles from our Library:
  • Facial Plastic Surgery Earns İts Place On ‘most Popular’ Holiday Gift List , Rich CASTELLANO MD
  • Brotox A Phenomenon Popular İn Tampa Bay , Rich CASTELLANO MD
  • Proof Positive, Facial Lifting Procedures Work , Rich CASTELLANO MD
  • Liposuction Is A Treatment For Obesity , Thomas LOCKE MD
  • Weight Loss After Pregnancy , Michele CAVENEE MD
  • Lymphedema — An Overview , Margarita CORREA MD
  • Chemical Addictions , Minh Anh HAN MD
  • Muscle Knot? It Might Be A Trigger Point , Minh Anh HAN MD
  • Cancer Rehabilitation Experience Over Twelve Years. Abstract- Amsterdam, Netherlands 2009 , Susan E CARTER MD
  • Cancer And Exercise. Abstract Brisbane, Australia 2009 , Susan E CARTER MD
  • Is Bacteria Causing You To Feel Bloated Or Have Excessive Flatulence? , Rakesh GUPTA MD
  • Stress And Irritable Bowel Syndrome İn The Real World , Rakesh GUPTA MD
  • Roger Rabbit Medical Mishaps , Mark SARACINO MD
  • Dangerous Herb And Drug Combinations , Mark SARACINO MD
  • Back To School Suggestions Of Monica Pierson, Md , Monica PIERSON MD
  • Treatment Of Depression , Farkhanda KHAN MD
  • Revision Surgery İn Otolaryngology Parotid-Benign Disease , John Francis CAREW JR MD
  • Regain Bladder Control İn 15 Minutes--Urethral Sling For Stress Urinary Incontinence , Scott Landis KRAMER MD
  • Office Treatment Offers Women Permanent Reduction Of Heavy Periods--Novasure Endometrial Ablation , Scott Landis KRAMER MD
  • Heartburn, Hiatal Hernia, And Gastroesophageal Reflux Disease (Gerd) , Rakesh GUPTA MD
  • All articles published in SuggestADoctor.com is written by Medical Doctors who are also our site members. So although they are considered as depandable resources they should never be used by site visitors without consulting with their own medical doctors, nor should be taken for granted about their being updated or accurate.These articles are for information purposes only and every information they contain must be checked with your own Medical professional.