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Dysmorphology Neck

Examination of neck 1. Inspection/observation 2. Neck motility 3. Palpation. 4. Ausculation
Minor variants Prominent thyroid cartilage "Adam's Apple"
Minor anomalies Branchial arch remnants
Deformations 1. torticollis 2. lateral neck webbing
Disruptions 1. Umbilical cord (late in gestation) 2. Amniotic bands
Dysplasia 1. Athyrotic hypothyroidism sequence 2. Congenital hypothyroidism 3. Hypoplasia/aplasia of the thymus and parathyroid glands
Athyrotic hypothyroidism sequence 1. Absence of thyroid 2. Jaundice 3. Cutaneous/vascular changes 4. Umbilical hernia 4. Cardiac defect 5. Periorbital edema
Congenital hypothyroidism 1. Thyroid enlargement 2. Incomplete thyroid most common cause 3. Untreated can lead to MR and growth failure
DiGeorge syndrome: Thymus 1. Failure of differentiation of 3rd and 4th pharyngeal pouches 2. Beneath breastbone 3. Controls development and maturation of T-lymphocytes 4. Poor immune function
DiGeorge syndrome: Parathyroid 1. 4 glands in neck 2. Turns on/off secretion of parathyroid hormone to maintain proper levels of calcium and phosphorus 3. Small glands=too little PTH=low calcium & high phosphorus
Malformations 1. Short neck 2. Neck pterygia 3. Branchial cleft abnormalities 4. Thyroglossal duct cysts or sinus
Branchial cleft abnormalities 1. Caused by failure of cleft obliteration 2. Located along anterior margin of sternocleidomastoid muscle 3. Branchial cleft cyst or sinuses 4. Branchial cleft fistula
Branchial cleft cyst or sinuses 1. Fluid filled 2. May drain into pharynx through branchial cleft sinus
Branchial cleft fistula 1. Extends from tonsillar fossa to the anterolateral neck 2. Drainage passage from the internal tissues to skin surface
Thyroglossal duct cyst or sinus 1. Midline position (distinguishes from branchial cleft abnormalities) 2. Can be fluid filled
Landmarks 1. Thyroid cartilage 2. Suprasternal notch3. Sternocleidomastoid muscle 4. Clavicle
Created by: kwilliams0228

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