Differentials
Fetal hydantoin syndrome
Fetal valproate syndrome
Toluene embryopathy
SIGNS / SYMPTOMS
INVESTIGATIONS
Williams syndrome
SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS
Wide mouth with full lips, stellate pattern of the iris, a loquacious (talkative) personality, and musculoskeletal and cardiac problems.[35][56][57]
INVESTIGATIONS
Deletion of one copy of the elastin gene in the 7q11.23 region of chromosome 7 seen on fluorescent in-situ hybridisation.
Elevated serum calcium levels (hypercalcaemia).
Supravalvular aortic stenosis, pulmonary stenosis, or peripheral pulmonary stenosis on echocardiogram.
Brachmann-de Lange syndrome
Maternal phenylketonuria
SIGNS / SYMPTOMS
INVESTIGATIONS
INVESTIGATIONS
Elevated maternal phenylalanine levels.
Genetic analysis detects one of numerous mutations that have been found in the gene that encodes for phenylalanine hydroxylase on chromosome 12 in the region q22-24.1.
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