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Dysmorphology Neck
| Question | Answer |
|---|---|
| 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 |