Epiphyseal dysgenesis is a feature of
Radiological finding * Retardation of osseous development * Absence of distal epiphysis * Epiphyseal dysgenesis * Deformity (beaking) of 12th thoracic or is&; or 2nd lumbar veebra * Skull show large fontanels and wide sutures Congenital hypothyroidism (CH) : is defined as thyroid hormone deficiency present at bih * most cases of congenital hypothyroidism are not herediatory and result from thyroid dysgenesis * Some cases may be famalial,usually caused by one of the inborn errors of thyroid hormone synthesis and may be associated with goiter. Clinical Manifestations Infants protected for is&; few wks of life * Fraction of maternal thyroid hormone crosses placenta * >4o wk GA * Head size Slightly higher % due to brain myxedema * Large fontanels & wide sutures * Macroglossia * Distended abdomen with umbilical hernia * Rough dry skin * Skin cold with mottling * Sensorineural deafness Sluggish feeding Constipation * Lethargic * Sleep more, needs to be awakened to feed * Hoarse cry * Hypothermia * Cardiomegaly * Murmur * Asymptomatic pericardial effusion * Macrocytic anemia * Hypotonic with slow reflexes * Prolonged physiological jaundice ref : maheswari 9th ed
Hyperparathyroidism
Hypoparathyroidism
Hypothyroidism
Hypehyroidism
Metabolic and endocrine disorders