Endocrinology Book

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Dysmorphic features in Congenital Dysorders

Aka: Dysmorphic features in Congenital Dysorders
  1. Findings: Body Habitus
    1. Obesity in Prader-Willi Syndrome
    2. Short and stocky girl in Turner Syndrome
    3. Newborn macrosomia in Beckwith-Wiedemann Syndrome
  2. Findings: Short Stature
    1. Down Syndrome
    2. Noonan Syndrome
    3. Prader-Willi Syndrome
    4. Russell-Silver Syndrome
    5. Skeletal Dysplasia
    6. Turner Syndrome
    7. Fetal Alcohol Syndrome
    8. Gluten-sensitive Enteropathy
    9. Cystic Fibrosis (typically age <2 at diagnosis)
    10. Cushing Disease
    11. Growth Hormone Deficiency
    12. Hypothyroidism
    13. Vitamin D Deficiency (Rickets)
  3. Findings: Tall Stature
    1. Growth Hormone secreting tumors (Gigantism)
    2. Thyrotoxicosis
    3. Marfan Syndrome
    4. Homocystinuria
    5. Cerebral Gigantism (Soto Syndrome)
    6. Beckwith-Wiedemann Syndrome
    7. Congenital Adrenal Hyperplasia (Untreated, pubertal)
    8. Klinefelter Syndrome
    9. Obesity
    10. Precocious Puberty
  4. Findings: Skull
    1. Craniosynostosis in Skeletal Dysplasia
    2. Craniotabes (softening of posterior skull bone, ping-ping ball feel)
      1. Vitamin D Deficiency (Rickets)
    3. Frontal bossing (prominent frontal forehead) in Sotos Syndrome
  5. Findings: Head
    1. Disproportionately large head in Skeletal Dysplasia
    2. Low posterior hairline in Turner Syndrome
    3. Microcephaly in Fetal Alcohol Syndrome
  6. Findings: Ears
    1. Dysplastic or folded in Down Syndrome
    2. Low set in Noonan Syndrome
    3. Thick helix in Noonan Syndrome
  7. Findings: Face
    1. Triangular-shaped face in Noonan Syndrome, Russell-Silver Syndrome
    2. Midface hypoplasia in hypopituitarism
    3. Moon facies in Cushing Syndrome
    4. Craniofacial abnormalities in Weaver Syndrome
    5. Facial Flushing in Sotos Syndrome
    6. Long narrow face in Sotos Syndrome
  8. Findings: Eyes
    1. Palpebral fissures (distance between upper and lower Eyelids)
      1. Upward slanted in Down Syndrome
      2. Downward slanted in Noonan Syndrome, Sotos Syndrome
      3. Narrow in Fetal Alcohol Syndrome
    2. Epicanthal folds
      1. Normal in some ethnicity (e.g. asian descent)
      2. Fetal Alcohol Syndrome
    3. Ptosis
      1. Noonan Syndrome
    4. Sclera
      1. Blue Sclera in Russell-Silver Syndrome
    5. Congenital Cataracts in Skeletal Dysplasia
  9. Findings: Nose
    1. Flat nasal bridge in Down Syndrome, Fetal Alcohol Syndrome
    2. High or prominent nasal bridge in Noonan Syndrome, Russell-Silver Syndrome
  10. Findings: Mouth
    1. Downward turned in Russell-Silver Syndrome
    2. Thin upper lip in Fetal Alcohol Syndrome
    3. High arched Palate in Turner Syndrome
    4. Smooth philtrum (depression between nose and mouth) in Fetal Alcohol Syndrome
    5. Macroglossia in Beckwith-Wiedemann Syndrome
  11. Findings: Jaw
    1. Micrognathia in Russell-Silver Syndrome
    2. Prominent, narrow jaw in Sotos Syndrome
  12. Findings: Neck
    1. Webbed Neck in Turner Syndrome
  13. Findings: Long bones
    1. Fractures in Skeletal Dysplasia
    2. Extremity bowing in Rickets
  14. Findings: Arms
    1. Increased Arm Span in Klinefelter Syndrome
  15. Findings: Hands
    1. Bulbous wrists in Rickets
    2. Transverse palmar crease (simian crease) in Down Syndrome
    3. Short Fourth Metacarpal in Turner Syndrome
  16. Findings: Nails
    1. Hypoplastic nails in Skeletal Dysplasia
  17. Findings: Feet
    1. Clubfoot in Skeletal Dysplasia
  18. Findings: Chest
    1. Pectus Excavatum in Noonan Syndrome
    2. Shield-shaped chest in Turner Syndrome
  19. Findings: Abdomen
    1. Violaceous striae in Cushing Syndrome
    2. Omphalocele in Beckwith-Wiedemann Syndrome
  20. Findings: Breasts
    1. Widely-spaced nipples in Turner Syndrome
  21. Findings: Genitourinary
    1. Hypogonadism in Prader-Willi Syndrome
    2. Micropenis in hypopituitarism
  22. Findings: Endocrine
    1. Hypoglycemia in Beckwith-Wiedemann Syndrome
    2. Feminization
      1. Sparse facial and body hair in Klinefelter Syndrome
      2. High pitched voice in Klinefelter Syndrome

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