BACKGROUND: We investigated how syndromic versus nonsyndromic forms of micrognathia impacted difficult intubation outcomes in children. Primary outcome was the first-attempt success rate of tracheal intubation, secondary outcomes were number of intubation attempts and complications. We hypothesized that syndromic micrognathia would be associated with lower first-attempt success rate.
METHODS: In micrognathic patients enrolled in the Pediatric Difficult Intubation Registry (08/2012-03/2019) we retrospectively compared demographic and clinical characteristics between children with nonsyndromic and syndromic micrognathia using standardized mean differences (SMD) and assessed the association of the presence of syndrome with the primary and secondary outcomes using propensity score matching analysis with and without matching for airway assessment findings.
RESULTS: Nonsyndromic patients (628) were less likely to have additional airway abnormalities. Syndromic patients (216) were less likely to have unanticipated difficult intubation (2% vs. 20%, SMD 0.59). First-attempt success rates of intubation were: 38% in the syndromic versus 34% in the nonsyndromic group (odds ratio [OR] 1.18; 95% confidence intervals [95% CI] 0.74, 1.89; p = .478), and 37% versus 37% (OR 0.99; 95% CI 0.66, 1.48; p = .959). Median number of intubation attempts were 2 (interquartile range [IQR]: 1, 3; range: 1, 8) versus 2 (IQR: 1, 3; range 1, 12) (median regression coefficient = 0; 95% CI: -0.7, 0.7; p = .999) and 2 (IQR: 1, 3; range: 1, 12) versus 2 (IQR: 1, 3; range 1, 8) (median regression coefficient = 0; 95% CI: -0.5, 0.5; p = .999). Complication rates were 14% versus 22% (OR 0.6; 95% CI 0.34, 1.04; p = .07) and 16% versus 21% (OR 0.71; 95% CI 0.43, 1.17; p = .185).
CONCLUSIONS: Presence of syndrome was not associated with lower first-attempt success rate on intubation, number of intubation attempts, or complication rate among micrognathic patients difficult to intubate, despite more associated craniofacial abnormalities. Nonsyndromic patients were more likely to have unanticipated difficult intubations, first attempt with direct laryngoscopy.

BACKGROUND: Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs).
METHODS: This is a retrospective descriptive study of children aged 0-18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom, from January 2006 to September 2021.
RESULTS: sPIDs were identified in 36 patients. Genetic diagnoses which are not commonly associated with PIDs and not included in the International Union of Immunological Societies classification were present in 7/36 (19%): Trisomy 22, Arboleda-Tham syndrome, 2p16.3 deletion syndrome, supernumerary ring chromosome 20 syndrome, Myhre syndrome, Noonan syndrome, and trichothiodystrophy/Cockayne syndrome complex. Recurrent and/or severe infections were the most common clinical features (n = 33, 92%). Approximately half had combined immunodeficiency or antibody deficiency. The most common extra-immunological manifestations include dysmorphism (72%), disorders of nervous (78%), musculoskeletal (69%), haematology/lymphatic (58%), and gastrointestinal, hepatic/pancreatic (58%) systems.
CONCLUSIONS: Patients with sPIDs often have multiorgan involvement and some are non-immunologically mediated. There should be a low threshold to clinically assess and investigate for disorders of immunity in any patients with syndromic features especially when they present with recurrent/severe/opportunistic infections, features of immune dysregulation, autoinflammation or lymphoproliferation.

Background Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes. Methods This was a retrospective chart review study conducted on all dysmorphic syndrome patients who attended genetic clinics at King Khalid National Guard Hospital in King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia from 2005 to 2016. Dysmorphic pediatric patients less than 14 years old who had genetic testing to confirm their diagnosis were included in the study. Patients who did not have any previous echocardiography were excluded. Results A total of 212 individuals (47% males and 53% females) were included. Eighty-five percent of Down syndrome patients had CHDs, and the most common CHD was an atrial septal defect (ASD) (51%). In patients with Turner syndrome, 45% of them had CHDs, and bicuspid aortic valve (BAV) (40%) was the most common defect. In DiGeorge syndrome, 81% of patients had CHDs, and ventricular septal defect (VSD) (41%) was the most common. In Williams syndrome, 83% of patients had CHDs. All patients with Noonan, Edwards, CHARGE (coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities), and Rubinstein-Taybi syndromes were found to have CHDs. In Patau syndrome and Joubert syndrome, 50% of patients in each had CHDs. Patients with Prader Willi syndrome had normal findings in the echocardiogram. Conclusion The highest prevalence of CHDs was found in Down syndrome. This study has a significant impact on the future of managing and directing the resources to improve the quality of life for syndromic patients. Further studies are needed to confirm these findings and to increase the local data in the field of CHDs in Saudi Arabia among syndromic patients.