سندرم پیرروبین ( THE PIERRE ROBIN SYNDROME )
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Role of SOX9 in the Etiology of Pierre-Robin Syndrome
Objective(s:Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The present study wa...
متن کاملThe Robin anomalad (Pierre Robin syndrome)--a follow up study.
During a 10-year period 55 patients with the Robin anomalad were admitted to the Liverpool Regional Cleft Palate Units. Fourteen (25%) children died. All deaths were within 3 months of birth. Congenital abnormalities other than mandibular retrognathia and cleft palate were present in 14 (26%) children. Peripheral limb defects were particularly common. Thirty children were recalled and reviewed ...
متن کاملNon-surgical management of Pierre Robin syndrome.
A review of relevant published reports seems to indicate that in the case of babies suffering from intermittent airway obstruction due to a combination of micrognathia, glossoptosis, and often cleft of hard and soft palate (the Pierre Robin syndrome), successful treatment usually includes surgery of one kind or another. However, some non-surgical methods have been advocated. Pierre Robin (1934)...
متن کاملRole of SOX9 in the Etiology of Pierre-Robin Syndrome
UNLABELLED Objective(s : Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The pre...
متن کاملHereditary cup-shaped ears and the Pierre Robin syndrome.
Malformations of the external ear are frequently observed in clinical practice, usually as an isolated finding without any significant family history. In 1937, Potter reported a five generation pedigree in which 22 people were affected with a cup-shaped ear deformity or 'cat's ear' (Potter, 1937). Subsequently, three other families with similar anomalies have been recorded (Grotting, 1958; Rome...
متن کاملrole of sox9 in the etiology of pierre-robin syndrome
objective(s:cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. pierre robin sequence is a subgroup of the cleft palate population. chromosomal abnormalities near the sox9 gene disrupt the regulation of this gene and prevent the sox9 protein from properly controlling the development of facial structures, which leads to isolated prs. the present study wa...
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عنوان ژورنال
دوره 24 شماره None
صفحات 75- 78
تاریخ انتشار 1966-04
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