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Dysmorphology Neck

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Question
Answer
Examination of neck   1. Inspection/observation 2. Neck motility 3. Palpation. 4. Ausculation  
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Minor variants   Prominent thyroid cartilage "Adam's Apple"  
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Minor anomalies   Branchial arch remnants  
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Deformations   1. torticollis 2. lateral neck webbing  
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Disruptions   1. Umbilical cord (late in gestation) 2. Amniotic bands  
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Dysplasia   1. Athyrotic hypothyroidism sequence 2. Congenital hypothyroidism 3. Hypoplasia/aplasia of the thymus and parathyroid glands  
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Athyrotic hypothyroidism sequence   1. Absence of thyroid 2. Jaundice 3. Cutaneous/vascular changes 4. Umbilical hernia 4. Cardiac defect 5. Periorbital edema  
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Congenital hypothyroidism   1. Thyroid enlargement 2. Incomplete thyroid most common cause 3. Untreated can lead to MR and growth failure  
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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  
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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  
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Malformations   1. Short neck 2. Neck pterygia 3. Branchial cleft abnormalities 4. Thyroglossal duct cysts or sinus  
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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  
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Branchial cleft cyst or sinuses   1. Fluid filled 2. May drain into pharynx through branchial cleft sinus  
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Branchial cleft fistula   1. Extends from tonsillar fossa to the anterolateral neck 2. Drainage passage from the internal tissues to skin surface  
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Thyroglossal duct cyst or sinus   1. Midline position (distinguishes from branchial cleft abnormalities) 2. Can be fluid filled  
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Landmarks   1. Thyroid cartilage 2. Suprasternal notch3. Sternocleidomastoid muscle 4. Clavicle  
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Created by: kwilliams0228
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