Published online by Cambridge University Press: 15 February 2010
Dysmorphic features may point to an underlying endocrine abnormality.
Approach to the problem
Midline defects, e.g. central cleft palate and/or lip, hypotelorism or hypertelorism.
Features of recognizable syndrome, e.g. Beckwith–Wiedemann syndrome (macroglossia, ear lobe creases, exomphalos), Smith–Lemli–Opitz (microcephaly, second- and third-toe syndactyly, see below), Robinow syndrome.
Other physical features to look for
Symmetrical growth retardation.
Micropenis (hypopituitarism, dysmorphic syndrome, see below).
Large-for-gestational-age, exomphalos, ear lobe creases (Beckwith–Wiedemann syndrome).
Hypoglycaemia (hormone insufficiency: e.g. cortisol, growth hormone (GH); hormone excess: i.e. insulin; metabolic abnormality).
Hypothermia (hypopituitarism; sepsis, which can be secondary to an underlying metabolic problem).
Prolonged jaundice (hypopituitarism).
Tetany or seizures (hypocalcaemia).
Consanguinity suggestive of an autosomal recessive problem.
Neonatal death suggestive of inherited disorder, e.g. metabolic disorder previously presenting as Escherichia coli septicaemia.
Facial appearance of parents (i.e. facial features may be normal for the family).
Underlying genetic defect
Hypopituitarism with or without septo-optic dysplasia (SOD), optic nerve hypoplasia (ONH)
Hypocalcaemia (hypoparathyroidism, e.g. DiGeorge syndrome)
Identify those with implication for:
urgent management (Beckwith–Wiedemann, SOD, inborn errors of metabolism);
hormone balance in the newborn period (infants with Down's syndrome have an increased incidence of hypothyroidism).
Always consider hypopituitarism in the infant with undermasculinized genitalia, particularly when associated with hypoglycaemia and/or hypotension.