Presentation
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]
Downslanting lid fissures, widely spaced eyes, and ptosis may be present. Eyebrows have been described as sparse in one patient. Strabismus and ocular apraxia are present in some children. [disorders.eyes.arizona.edu]
These patients may present respiratory difficulties in the first months of life caused by the presented malformations, which may become complicate with colds and infections, mainly in children. [arquivosdeorl.org.br]
Presentation on theme: "A Review of Pediatric Syndromes"— Presentation transcript: 1 A Review of Pediatric Syndromes Jamie Tibbo, PGY-5 Department of Otolaryngology July 25, 2008 2 CHARGE Syndrome Autosomal Dominant Due to a mutation in DNA-binding protein [slideplayer.com]
Entire Body System
-
Physician
Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.de]
The Physician’s Guide to Treacher Collins Syndrome. The National Organization for Rare Disorders. 2012. Available at: . Accessed July 13, 2016. Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. [rarediseases.org]
An understanding of these congenital and acquired lid disorders may assist the physician in understanding coexisting ocular and systemic abnormalities. [doctorlib.info]
-
Surgical Procedure
Surgical procedures vary depending on the extension of malpositions and fall into two categories: ‘destruction’ and/or ‘repositioning’ of eyelashes/hair follicles. DEFINITION. [oculoplastica.it]
If the patient carries palatine fissure, it should be dealt according to the current treatment protocols, with the immediate use of functional orthopaedics of the maxillas extending as much as possible the surgical procedure of fissure closing until the [arquivosdeorl.org.br]
-
Dentist
[…] orbit reconstruction with calvaria bone grafts and correction of lateral canthal displacement; reconstruction of ear is done from 5 to 7 years of age; then, the correction of the inferior part of face and mandible, by craniofacial surgeon, pediatric dentist [arquivosdeorl.org.br]
Jaw & Teeth
-
Malocclusion
Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. [ncbi.nlm.nih.gov]
(seen in Waardenburg syndrome) Sparse or patchy Coarse (common in storage disorders) Teeth Conical Malocclusion Discoloration "Brittle" (common in osteogenesis imperfecta) (continued) TABLE 4.7 (continued) Hands and feet Short fingers/toes (brachydactyly [flandershealth.us]
Lateral cephalogram tracing [Figure 4] revealed severe skeletal class II malocclusion with normodivergent growth pattern, tending toward hyperdivergence. [jofs.in]
[…] smaller, respectively; the globe’s volume was 15% and 36% larger, respectively; and the orbital soft-tissue volume was 19% and 29% less, respectively. [5] The upper dental arch in Crouzon syndrome is narrowed and retruded, which results in a class III malocclusion [emedicine.medscape.com]
-
Mouth Breathing
Dolichocephaly, right anterior upsweep of hairline, small nose with flat root, hypoplastic tip and small anteverted nostrils with mouth-breathing facial changes (Fig. la); abnormal iris structure with small palpebral fissures and moderately severe ptosis [docslide.com.br]
Ears
-
Hearing Impairment
Hearing impairment Sotos syndrome Hearing impairment Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment Wolfram syndrome (DIDMOAD) [genomediagnosticsnijmegen.nl]
Individuals with chromosome anomalies often have hearing impairment (Tewfik et al., 1997). [flandershealth.us]
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS Is also known as ;cdhs; sommer-young-wee-frye syndrome Related symptoms: Autosomal dominant inheritance Hearing impairment Hypertelorism Micrognathia Sensorineural hearing impairment SOURCES: MONDO OMIM UMLS SCTID [mendelian.co]
impairment from EAC and/or middle ear malformations Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ 6 Treacher-Collins Syndrome (Mandibulofacial [slideplayer.com]
Moebius Syndrome A condition of facial difference characterized by paralysis of the seventh (sometimes sixth) cranial nerve(s), microtia, and sometimes chest and limb anomalies (extra or webbed fingers or toes), cleft palate, hearing impairment, and a [friendlyfaces.org]
Eyes
-
Small Palpebral Fissures
Dolichocephaly, right anterior upsweep of hairline, small nose with flat root, hypoplastic tip and small anteverted nostrils with mouth-breathing facial changes (Fig. la); abnormal iris structure with small palpebral fissures and moderately severe ptosis [docslide.com.br]
Skin
-
Striae Distensae
[…] septal cartilage Nystagmus Muscular hypotonia Joint dislocation Anterior pituitary agenesis Gingival overgrowth Mitral regurgitation Constipation Joint hypermobility Hip dislocation Cataract X-linked inheritance Heterogeneous Hypertrichosis Macrotia Striae [mendelian.co]
Treatment
Probst has been an innovator in many refractive surgery techniques that include the treatment of LASIK flap striae, cross cylinder ablation techniques for the treatment of high mixed astigmatism, bioptics for the correction of high hyperopic astigmatism [books.google.de]
Treatment Treatment Options: No known treatment has been reported. [disorders.eyes.arizona.edu]
The local medical treatment of malposition of eyelashes has only the purpose of reducing the irritative symptoms. [oculoplastica.it]
Prognosis
[…] medical testing related to Deafness conductive - ptosis - skeletal anomalies: * Concentration -- Home Testing * ADHD -- Home Testing * Ear Infections: Home Testing: o Home Ear Infection Tests o Home Ear Tests o Home Hearing Tests * Home Andropause Tests Prognosis [checkorphan.org]
The prognosis for Type 2 patients is poor, with a high likelihood of neurologic problems and early death. [craniokids.co.za]
The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis. J Craniomaxillofac Surg. 2011; 39 (1): 10-6[ DOI ][ PubMed ] 14. [orthodontics.pub]
Attempts to repair the skin defect often involve corneal transplantation with poor visual prognosis. The nasolacrimal system is usually absent or malformed. Cryptophthalmos can be either unilateral or bilateral. [doctorlib.info]
The overall prognosis of Nager AFD is good and after infancy most patients are healthy and presumed to have normal life span. [jofs.in]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
Acquired causes and unknown reasons equally subdivide the remaining etiological factors in hearing loss (Khoury et al., 1997). [flandershealth.us]
[…] antimongoloid palpebral fissures Hypoplasia: zygoma/arches mandible (class II) lower lids Ears/EACs TMJ Clefting: palate zygoma Craniofacial Microsomia (Hemifacial Microsomia, OAVD) OculoAuriculoVertebral Dysplasia 1st and 2nd Branchial Arch Malformations Etiology [quizlet.com]
Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009;17:275-283. Jones NC, Lynn ML, Gaudenz K, et al. [rarediseases.org]
Etiology Treacher Collins syndrome has been associated with mutations in TCOF1, POLR1C, and POLR1D. [eyewiki.aao.org]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]
Prevention
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. 2008;14:125-133. [rarediseases.org]
Prevention - Deafness conductive ptosis skeletal anomalies Not supplied. [checkorphan.org]
Flat Frontal-Nasal angle Frontal sinus hypoplasia Class III occlusion Anterior apertognathia Treat between 13 - 16 yrs 1 in 8500 births Genetic Disorders vs Fetal positioning Micrognathia Glossoptosis Horseshoe cleft palate Superiorly placed tongue prevents [quizlet.com]
Surgery for Trichiasis, Antibiotics to prevent Recurrence (STAR) Clinical Trial methodology. Ophthalmic Epidemiol. 2005;12:279-86. Tirakunwichcha S, Tinnangwattana U, Hiranwiwatkul P. [oculoplastica.it]
[…] descent of the tongue into the oral cavity; prevents secondary palate fusion Associated with a syndrome in 50-80% of cases, most commonly Stickler & VCF syndromes 19 Pierre-Robin Sequence Figure Robin sequence. [slideplayer.com]