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UAMS Dysmorphology 3

Nose, Perioral Region, Oral Cavity and Neck

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