Results 21 to 30 of about 3,814,939 (217)

Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

Molecular Genetics and Metabolism Reports, 2015
Catel–Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger. Recently, homozygous or compound heterozygous pathogenic variants in TGDS have been discovered to
Rachel Pferdehirt, Mahim Jain, Maria A. Blazo, Brendan Lee, Lindsay C. Burrage   +4 more
doaj   +1 more source

Effective intubation technique to manage the airway obstruction in A case of Pierre Robin sequence: A case report

Clinical Case Reports, 2022
The case was a 4‐day‐old boy referred to the hospital with a diagnosis of Pierre Robin Sequence and with airway Obstruction. Using a laryngoscope in the hyperextended position and putting pressure on the cricoid, the vocal cords were visualized, and with
Shahrokh Mehrpisheh, Roya Farhadi
doaj   +1 more source

Retrospective study on growth in infants with isolated Robin sequence treated with the Tuebingen Palate Plate

Orphanet Journal of Rare Diseases, 2021
Background Children with Robin sequence (RS) are at risk of growth failure, mainly due to their increased work of breathing and feeding difficulties. Various conservative and surgical treatment approaches exist, but their impact on weight gain has not ...
Cornelia Wiechers, Regina Iffländer, Rieke Gerdes, Melissa Ciuffolotti, Jörg Arand, Christina Weise, Katharina Peters, Bärbel Grandke, Siegmar Reinert, Bernd Koos, Christian F. Poets   +10 more
doaj   +1 more source

Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes

Hematology, Transfusion and Cell Therapy, 2018
Background: This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes. Methods: A retrospective cross-sectional study was performed of a cohort of Robin Sequence patients of the Hospital de Reabilitação de ...
Kaique Cesar de Paula Silva, Thiago Silva Messias, Gisele da Silva Dalben, Narciso Almeida Vieira   +3 more
doaj   +1 more source

Pierre Robin sequence with a novel mutation in SOX9 gene: Case study

Human Pathology: Case Reports, 2021
Background: Pierre Robin Syndrome (PRS) is a rare congenital anomaly characterized by micrognathia, glossoptosis, and cleft palate. The PRS has been found to be associated with the cleft palate with the incidence of 1/8500 to 1/14000 births.
Mohd Murtaza, Md Niamat Ali, Mahrukh Hameed Zargar   +2 more
doaj   +1 more source

Use of Mandibular Distraction Osteogenesis to Correct Micrognathia and Airway Obstruction in Newborn Female

Marshall Journal of Medicine, 2022
We present a case of Pierre Robin sequence and Neonatal Abstinence Syndrome (NAS) in a newborn female patient to highlight the surgical technique of mandibular distraction osteogenesis to correct airway obstruction due to micrognathia.
Seneca Williams, Adam Van Horn
doaj   +1 more source

Pierre Robin sequence: two case reports

, 2018
Pierre Robin sequence was first described as a syndrome; however, it is currently recognized as a sequence that includes mi crognathia, glossoptosis, and paroxysmal respiratory obstructions.
Ana Cristina Rodrigues Antunes de Souza, Sergio Monteiro Lima Junior, Fernanda Brasil Daura Jorge Boos Lima, Leandro Napier de Souza, Larissa Santos Perez Abreu   +4 more
core   +1 more source

Congenital Bilateral Perisylvian Syndrome Associated with Pierre Robin Sequence: a Case Report

Iatreia
Introduction: Pierre Robin sequence is characterized by the classic triad of congenital micrognathia, glossoptosis, and airway obstruction. It is caused by various etiologies, including cortical development malformations as seen in congenital perisylvian
Castro-Murillo, Julio Cesar , Gómez-Guzmán, Enid Leticia, Rojas-Cerón, Christian Andrés   +2 more
doaj   +1 more source

Pierre Robin sequence and obstructive sleep apnea

Arquivos de Neuro-Psiquiatria, 1994
The case of a 12-year-old female patient with Pierre Robin sequence is reported, in which reduction of the pharyngeal airway leads to obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness.
Rubens Reimão, Elio Giacomo Papaiz, Luiz Fernando Papaiz   +2 more
doaj   +1 more source

Management of infants with Pierre Robin sequence

, 2021
Pierre Robin sequence is a congenital disorder classically characterized by retrognathia, glossoptosis and upper airway obstruction with or without cleft palate.
Malek Abrahimians, Elin, Bayet, Bénédicte   +1 more
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