Clinical manifestations of hoarse cry, umbilical hernia, hypotonia, mottling of skin, lethargy, prolonged jaundice is seen in:
d. Congenital hypothyroidism(Ref: Nelson's 20/e p 2669-2773, Ghai 8/e p 516-521)The given clinical features, i.e. hoarse cry, umbilical hernia, hypotonia, mottling of skin, lethargy, prolonged jaundice suggest a diagnosis of congenital hypothyroidismClinical Features of Congenital Hypothyroidism:Thyroid dysgenesis presents at birth; ectopic thyroid usually presents late10-15% of cases due to inborn errors of thyroid hormone synthesis and often present after infancyOne of the earliest signs of congenital hypothyroidism is patent posterior fontanele and wide open cranial sutures.Umbilical hernia, constipation, hypothermia, feeding difficulty, breathing difficulty, prolonged physiological jaundice and hypotoniaMuscles are usually flaccid and hypotonic except in one variant, Kocher-Debre-Semelaigne syndrome, where muscles (esp calf muscles) are hypertrophied; returns to normal with treatmentsDentition is delayed and DTR slow relaxation; refractory anemia is common.
Gaucher's disease
Mucopolysaccharidosis
Growth hormone deficiency
Congenital hypothyroidism
Endocrinology