- Patent posterior fontanel and wide open cranial Sutures
- Skin dry coarse and thick, mottled
- Abdomen - protuberant
- Birth weight higher than the average but they are lethargic.
- They sleep most of the time, cry little, feed poorly and often get chocking spells during feeding.
- Prolonged physiological jaundice
- Screening : Best with cord blood, or after 72 hrs
Short neck with supraclavicular fat and hoarse voice
Dentition and skeletal maturation is significantly delayed.
Refractory anemia is common.
- Short and stocky with disproportionately large head and trunk as compared to limbs
- Ratio of upper and lower segments of body is increased**
- Puberty is delayed Q
- Serum levels of T4 and T3 low and TSH elevated.
- Scrum prolactin is elevated.
- Retarded bone age (Absence of distal femoral epiphysis at birth) and epiphyseal dysgenesis
- Beaking of 12th thoracic 1st or 2nd lumbar vertebra.
- Skull x-ray shows large fontanel, wide sutures and wormian bones:
- Serum cholesterol is usually elevated.
Neonatal Screening for Hypothyroidism
- By measurements of blood T4 and TSH
- Low T4 with elevated TSH - Primary hypothyroidism.
- Low T4 and normal or decreased TSH - Thyroid binding globulin deficiency or secondary hypothyroidism