Int. J. Pediatr. Otorhinolaryngol.
Associated syndromes in patients with Pierre Robin Sequence.
Karempelis P, Hagen M, Morrell N, Roby BB
Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft p ...
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Source: PubMed
Ann Plast Surg 2020 Jan 06
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair.
Jackson OA, Kaye AE, Lee A, Minugh-Purvis N, Cohen MA, Solot CB, McDonald-McGinn D, Jawad AF, Zackai EH, Kirschner RE
The purpose of this study was to characterize airway problems, speech outcomes, and facial growth in patients with Stickler syndrome undergoing cleft ...
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Source: PubMed
Am J Ophthalmol Case Rep
Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome.
Ebert JJ, Utz VM, Sisk RA
To present a rare presentation of abusive head trauma (AHT) in an infant with a hereditary vitreoretinopathy. ...
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Source: PubMed
Anesth. Analg. 2019 Dec 16
Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.
Zimmermann J, Stubbs DJ, Richards AJ, Alexander P, McNinch AM, Matta B, Snead MP
Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment re ...
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Source: PubMed
Am. J. Med. Genet. A 2019 Dec 12
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA
Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the AMPD2 gene. We eva ...
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Source: PubMed
