choanal atresia/crise epiléptica

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Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

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We describe a 14-year-old boy with congenital bilateral cataracts, blepharophimosis, ptosis, choanal atresia, sensorineural hearing loss, short, webbed neck, poor esophageal motility, severe growth and mental retardation, skeletal anomalies, seizures, and no speech. As an infant, he had transient

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.

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We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis

Esophageal atresia, choanal atresia, and dysautonomia.

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Patients with esophageal atresia (EA) or choanal atresia (CA) manifest similar clinical and pathophysiological features. To determine the significance of this observation, the clinical records of 80 patients with EA and 57 with CA were reviewed. This survey showed that similarities between the two

Anaesthetic implications of Costello syndrome.

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Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal). Of primary concern to anaesthesiologists are potential

22q11.2 syndrome due to maternal translocation t(18;22) (pl1.2;q11.2).

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22q11.2 deletion syndrome is a pattern of malformations resulting from abnormalities during cephalic neural crest migration and during the development of the third and fourth branchial arch. It is also known as DiGeorge syndrome, as it is most often associated with a de novo 3 Mb hemizygous 22q11.2

Observational study on the performance of the Narhinel method (nasal aspirator and physiological saline solution) versus physiological saline solution in the prevention of recurrences of viral rhinitis and associated complications of the upper respiratory tract infections (URTI), with a special focus on acute rhinosinusitis and acute otitis of the middle ear.

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OBJECTIVE The aim of this study was to assess the validity of Narhinel method in the prevention of recurrences of viral rhinitis and of any associated sequelae, in particular acute otitis of the middle ear (AOM) and acute rhinosinusitis (AR). METHODS This was a prospective observational study, in

Natural history of non-lethal Raine syndrome during childhood.

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Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

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Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused

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