Table 5.

List of Clinical Features of RTHα

SystemInfant and ChildAdult
Early featurespoor feeding; coarse cry; umbilical hernia
Developmentaldelayed milestones; growth retardationshort statute (short limbs)
Somatic defects
(Dysmorphism)
macroglossia, broad and coarse face, broad face, thick lips, flat nasal bridge
skin tags
Skeletaldelayed fontanel closure
epiphyseal dysgenesis
serpiginous cranial sutures
cranial and cortical hyperostosis
Gastrointestinalconstipation; bowel dilatationconstipation
Cardiovascularbradycardiabradycardia, low blood pressure
Neurologicaldelayed speech; dyspraxiadysarthria, slow motor initiation
ataxia, dysdiadochokinesis, low IQ
Metaboliclow metabolic Low metabolic rate, reduced resting energy expenditure, peripheral markers of TH action compatible with hormone deprivation
Hematologicalmild anemiamild anemia

Data derived from references (193, 298)

From: Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism, and Action

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