FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome
نویسندگان
چکیده
منابع مشابه
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
BACKGROUND Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare condition defined by eyelid colobomas, cryptophthalmos and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports o...
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The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malformations including anteriorly placed anus. A similar constellation of findings-microphthalmia, cryptoph...
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This article reviews the current status of anorectal malformations in the neonate. It begins by discussing the history, epidemiology, and embryology, followed by a discussion of the genetic process causing these diseases. Diagnosis and workup is then discussed, followed by specific details of the surgical treatment of these malformations. The article concludes with a brief review of the complic...
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Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula...
متن کاملTeaching Anorectal Malformations
I was following Dr. Sushmita Bhatnagar's tutorials.[1,2] It is conventional, although necessary to teach as a primary need. I feel teaching anorectal malformations should include write up on issues of continence and constipations as these are lifelong problems in these patients. Teaching anatomy and physiology of continence and various techniques to manage incontinence or constipations is of pr...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.08.010