نتایج جستجو برای: choanal atresia

تعداد نتایج: 10206  

2014
Andrea Esposito Maria Tufano Iolanda Di Donato Martina Rezzuto Nicola Improda Daniela Melis Mariacarolina Salerno

CHARGE association is characterized by ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. Growth failure is a frequent find mainly associated with feeding difficulties or systemic diseases. To date, GH deficiency has been reported in only few patients with CHARGE association however long-t...

2014
Muhammad SAEED Anwar ul HAQ Khaqan QADIR

OBJECTIVE Bart's syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart's syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a ra...

Journal: :Journal of medical genetics 1993
A L Collins P W Lunt C Garrett N R Dennis

A family with probable dominant holoprosencephaly is presented with five affected subjects in two sibships, the offspring of healthy sisters who are presumed gene carriers. Of the affected children, three had cebocephaly and died shortly after birth. One had left choanal atresia, retinal coloboma, a single central maxillary incisor, microcephaly, short stature, and learning problems. Another ha...

Journal: :European journal of medical genetics 2016
Majid Aflatounian Holly Smith Fatemeh Farahani Azam Tofighi Naeem Anna Straatman-Iwanowska Samaneh Zoghi Urvi Khatri Parisa Tajdini Gholam Hossein Fallahi Paul Gissen Nima Rezaei

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal a...

Journal: :British Journal of Surgery 2021

Abstract Introduction Choanal atresia (CA) is a congenital obstruction of the posterior nasal aperture due to cavity canalisation failure. Endoscopic endonasal surgery has led successful CA repair and fewer complications compared open surgery. We describe our surgical technique that uses septal mucosal flaps without need for stenting or subsequent intubation. Method A multicentre retrospective ...

Journal: :International Journal of Contemporary Medical Research [IJCMR] 2019

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