The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. [ncbi.nlm.nih.gov]

• Short Stature

  stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Short stature, aplasia /hypoplasia of the radius Homozygous or compound heterozygous mutation in the RECQL4 Cornelia de Lange syndrome (OMIM# 122470) Facial defects, growth restriction and mental retardation, upper limb anomalies Defects in chromosome [gynecology-obstetrics.imedpub.com]

  stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes Stubby toes [ more ] 0001831 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tetralogy of Fallot 0001636 Toe syndactyly Fused toes Webbed toes [rarediseases.info.nih.gov]

  Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3]. [symbiosisonlinepublishing.com]

• Hearing Impairment

  He will likely have a hearing impairment because of his underdeveloped ears. The hearing impairment could also lead to speech delays. He will have trouble playing sports because of his arm motion will be limited. [myriverside.sd43.bc.ca]

  impairment Low-set ears Posteriorly rotated ears Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  […] more ] 0000750 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of upper jaw Maxillary [rarediseases.info.nih.gov]

  The inner ear bones often will be poorly formed, causing hearing impairment or loss, which may or may not be correctable with surgery or a hearing aid. [houstoncraniofacial.com]

  Conclusion: Regular ear check-up in people with DS is essential for the detection and treatment of ear wax, OME and hearing impairment which is highly prevalent in them. Pneumatic otoscopy is recommended for the detection of OME in all age groups. [nigerianmedjournal.org]

• Extension of Elbows Limited

  elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar [rarediseases.info.nih.gov]

• Absent or Hypoplastic Thumbs

  Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. [ncbi.nlm.nih.gov]

• Shortened Upper Limbs

  A few very severely affected individuals have severely shortened upper limbs (phocomelia). [rarediseases.org]

• Pierre Robin Syndrome

  PIERRE ROBIN ANOMALAD / SYNDROME Robin sequence previously known as Pierre Robin syndrome and Pierre Robin anomalad consists of three essential components: Micrognathia or retrognathia Cleft palate (usually U-shaped, but V-shape also occurs) Glossoptosis [fetalultrasound.com]

  Doctors told Emi and Andrew that she may have Pierre Robin syndrome, where a smaller than normal lower jaw causes breathing problems. "We were so shocked and worried," says Andrew. [gosh.nhs.uk]

  In Holt Oram and Fanconi syndrome, there is no mandibular and malar hypoplasia. Diagnostically relevant are: Goldenhar syndrome, Pierre-Robin syndrome and Vater associations with the absence of radial and thumb aplasia in all. [gynecology-obstetrics.imedpub.com]

  Synonyms: Pierre Robin syndrome (PRS), Pierre Robin anomaly/anomalad, Pierre Robin malformation (PRM) complex, Robin sequence, Robin complex Related conditions - these may display features of the malformation: Stickler's syndrome, velocardiofacial syndrome [patient.info]

  Pierre Robin syndrome. Preoperative appearance. Pierre Robin syndrome. Preoperative appearance. Mild cases are treated by placing the baby on its side or face down with the foot of the cot raised. [emedicine.medscape.com]

Clinical Testing and Workup Specialized x-ray studies will confirm the presence and/or extent of certain observed craniofacial abnormalities. [rarediseases.org]

Treatment was safe and successful in this case. [ncbi.nlm.nih.gov]

Treatment planning requires a craniofacial team to sequence the ear reconstruction, jaw reconstruction and soft tissue reconstruction. [rchsd.org]

Management and treatment Management must focus on neonatal respiratory distress (tracheostomy) and feeding difficulties (gastrostomy). [orpha.net]

Distinguishing this condition from similar syndromes is critical for care and prognosis. [ncbi.nlm.nih.gov]

Prognosis After infancy, most patients are healthy and are presumed to have a normal lifespan. [orpha.net]

Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia. [ncbi.nlm.nih.gov]

“These studies,” says Professor Saint-Jeannet, will identify genes important for neural crest and craniofacial development, and will provide novel insights into the etiology and pathogenesis of Nager syndrome. [nyu.edu]

Etiology In approximately 50% of patients, NAFD has been associated with heterozygous mutations in the SF3B4 gene (1q21.2), coding for a component of the splicing machinery. [orpha.net]

The scientific developments have fast-tracked our insights SARS-CoV-2 epidemiology, likewise vaccinology relevant for developing drugs for viral infections treatment. [ijtmgh.com]

Summary Epidemiology The prevalence is unknown; more than 100 cases of NAFD have been published. [orpha.net]

The mechanisms that link the metabolic abnormalities of MS with the pathophysiology of clinical diseases associated with MS are numerous and poorly understood (Rahamon et al., 2014). [new.ejpsy.eg.net]

[…] facilitating pre-synaptic release and blocking post-synaptic reuptake of dopamine.34,35 Based on evidence from epidemiological and basic science studies, head injury is considered a susceptibility factor for Parkinson disease, which is thought to share pathophysiological [ncbi.nlm.nih.gov]

It is therefore possible that the extrinsic pathway is unaffected by the pathophysiologic changes that occur in nephrotic syndrome. About 90% of children with nephrotic syndrome had INR within reference range. [bmcnephrol.biomedcentral.com]

Nephrotic syndrome in infants and children: pathophysiology and management. Paediatr Int Child Health. 2017;37(4):248–258. 11. [dovepress.com]

One other study raised the concept of unloading the condyles during the mandibular distraction to prevent subsequent ankylosis. [ncbi.nlm.nih.gov]

The authors would advocate early pollicization in patients with thumb anomalies to prevent any impairment in manual dexterity. * Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, SA, Australia † Team for Congenital Hand and Upper [journals.lww.com]

Prevention and control of sick building syndrome (SBS). Part 1: Identification of risk factors. Int J Sanit Eng Res. 2014;8:16-40. [oamjms.eu]

Diagnosis, therapy, and prevention of the cracked tooth syndrome.Quintessence Int. 2003; 34: 409-417 Hiatt W.H. Incomplete crown-root fracture in pulpal-periodontal disease.J Periodontol. 1973; 44: 369-379 Ehrmann E.H. Tyas M.J. [jendodon.com]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]