The clinical consequences of the immotile cilia syndrome include chronic cough and expectoration, bronchiectasis, chronic rhinitis and nasal polyposis, chronic or recurrent sinusitis, and often an agenesis of the frontal sinuses. [ommbid.mhmedical.com]

Many children experience recurrent sinusitis. In the ears, mucociliary clearance in the eustachian tubes is responsible for clearing the middle ear. Children experience recurrent otitis media, glue ear and hearing loss. [journals.rcni.com]

sinusitis as well as chronic mucopurulent sputum production are common features. [jmg.bmj.com]

Our program combines the collaborative efforts of pediatric pulmonologists, pediatric otolaryngologists (ENT), geneticists, cardiologists, neonatologists, respiratory therapists, pulmonary technologists, pathologists and many support staff members. [childrensmn.org]

Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication [invitae.com]

9:50 – 10:00 Discussion 10:00 – 10:20 Orly Elpeleg MD, Hadassah Hebrew University Medical Center, Israel The Exome Revolution in Diagnosing Rare Inherited Pediatric Disease 10:20 – 10:30 Discussion 10:30 – 10:50 Heymut Omran, MD, University Hospital Muenster [pcd-italia.it]

I'm going back and forth between being excited at getting a possible diagnosis finally and crying because my baby really is sick. I kept secretly hoping the doctor would tell me she was fine and I was just overly worried. [forums.cysticfibrosis.com]

1 Computed Tomography Description of the Uncinate Process Angulation in Patients With Cystic Fibrosis and Comparison With Primary Ciliary Dyskinesia, Nasal Polyposis, and Controls. ( 30884997 ) 2019 2 Pulmonary arteriovenous malformations leading to hypoxemia [malacards.org]

Sensing the presence of unwanted elements, the lungs step up production of mucus to flush them out. [sites.google.com]

Upper airway symptoms include rhinosinusitis and recurrent serous otitis media with hearing impairment [ 6 ]. Situs inversus is found in approximately 50% of cases and situs ambiguous is seen in approximately 10% of cases [ 6, 7 ]. [link.springer.com]

Individuals with PCD may also have situs inversus or situs ambiguous, headaches or hydrocephalus. All the causative genes identified thus far have roles in the development and function of cilia and flagella. [flystocks.bio.indiana.edu]

Symptoms of hydrocephaly include: Neurological Digestive and Urinary Movement Increased sleepiness/fatigue Nausea Altered pattern of walking (gait) Seizures Vomiting Poor coordination Headaches Loss of bladder control Generalized slowing of arm/leg movement [study.com]

Recommendations for surgical indications arising from this review include: nasal obstruction, polyposis, headache or facial pain, medialization of the lateral nasal wall and pulmonary exacerbations associated with sinusitis refractory to medical treatment [medcraveonline.com]

This year is extra exciting as we are celebrating 15 years of serving the PCD community. [eventbrite.com]

I'm going back and forth between being excited at getting a possible diagnosis finally and crying because my baby really is sick. I kept secretly hoping the doctor would tell me she was fine and I was just overly worried. [forums.cysticfibrosis.com]

A new exciting era is cheerfully rising from genetic studies that will result in improving the outcome of affected patients. [frontiersin.org]

A cytology brush is inserted into the nostril and agitated along the turbinate ( Figure 6 ). Sampling is uncomfortable but not painful, and takes only a few seconds. [journals.rcni.com]