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UAMS Dysmorphology 3
Nose, Perioral Region, Oral Cavity and Neck
| Question | Answer |
|---|---|
| In a Nose exam what 5 things are assessed? | Size relative to face, Symmetry/position, Growth in three dimensions, Firmness, and objective measures |
| Deformations of the Nose caused by? | Oligohydramnios, Multiples, Uterine abnormalities, Fetal positioning. |
| Disruptions of the Nose caused by? | Amniotic bands |
| Dysplasias of the Nose can cause? | Coarsening - Dyggve-Melchior-Clausen syndrome Flat/low nasal bridge - achondroplasia Prominent nose - Seckel syndrome Short nose/ anteverted nares - Stickler |
| Malformations of the Nose? | Holoprosencephaly - Incomplete division of the forebrain into hemisphers. Frontonasal dysplasia - defect in midface development. Nasal pit, Anterior encephalocele, Choanal atresia/stenosis |
| Hallerman-Streiff syndrome features | thin, small pointed nose. |
| Robinow syndrome features | fetal face, short nose anteverted nares |
| A VCFS 22q11.2 nose? | Columnar nose (narrow nose, squared nasal root) |
| Trichorhinophalangeal syndrome | "pear-shaped" nose. Hair Nose Fingers. |
| Rubenstein-Taybi features | prominent nose, short columella, deviated septum |
| Binder syndrome features | Hypoplastic nose, coanal atresia |
| Perioral Region exam, 4 things examined? | Size, symmetry, contour, and Lateral Inspection. |
| Retrognathia | Overbite |
| Prognathia | Jutting Mandible |
| Mandibular Hypoplasia | Small mandibular development. Most Common abnormality. Deformational or Malformational |
| Disruptions of the Perioral region | Amniotic bands |
| Dysplasias of the Perioral Region | Prominent lips, Angiofibromas, Macrognathia |
| Malformations of the Perioral Region | Cleft Lip, Median cleft, Truemacrostomia, Micrognathia, Lower Lip pits. |
| Oral Cavity examination looks for what 5 things | Anatomy, Teeth, Palate shape, Tongue size, Palate movement/submucosal cleft |
| Disruptions of the Oral Cavity | Amniotic Bands |
| Deformations of the Oral Cavity | Persistence of the secondary alveolar ridge, U-shaped palate |
| Dysplasias of the Oral Cavity | Pigmented macules, Enamel hypoplasia, Oligo/anodontia, V-shaped palate. |
| Malformations of the Oral Cavity | Microglossia, Macroglossia, Asymmetry of tongue, Lobulated tongue, Cleft palate, Bifid uvula, submucosal cleft palate. |
| Cricoid Cartilage | Adam's Apple |
| Which 3 arches give rise to the development of the neck. | 2nd, 3rd, 4th. |
| Atlas, Axis and occipital condyles? | Fit together to have a place for the skull to sit. |
| What are the 3 landmarks of the neck | Thyroid cartilage, suprasternal notch, clavicle |
| What syndrome has axial and atlas insufficiency? | Down syndrome. |
| 4 examination techniques of the Neck | Inspection/obervation, Neck motility, Palpation, Auscultation |
| Deformations of the neck | Redundant neck skin, Torticollis, Lateral Neck webbing. |
| 2 syndromes with neck webbing? | Noonan and Turners |
| Disruptions of the neck | Amniotic bands and umbilical cord. |
| Dysplasias of the neck | Thyroid enlargement, Absence of thyroid, Hypoplasia/aplasia of the thymus and parathyroid glands. |
| Name the 1 syndrome we talked about in regard to the dysplasia of the neck | DiGeorge syndrome - Failure of tissue differentiation in the 3rd and 4th pharyngeal pouch |
| Malformations of the neck | Short neck, neck pterygia (Escobar), Branchial arch remnants, Thyroglossal duct cysts or sinus. |
Created by:
btkosewski
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