Differentials

Fetal hydantoin syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Maternal history of phenytoin use during pregnancy.

Depressed nasal bridge, and short nose with bowed upper lip.[35][56]

INVESTIGATIONS

There are no differentiating tests; diagnosis is based on history and examination.

Fetal valproate syndrome

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Maternal history of valproate use during pregnancy.

High forehead, infraorbital crease or groove, small mouth, and a narrow bifrontal diameter.[35][56]

INVESTIGATIONS

There are no differentiating tests; diagnosis is based on history and examination.

Toluene embryopathy

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Maternal history of toluene exposure during pregnancy.

Large anterior fontanelle, downturned corners of the mouth, hair patterning abnormalities, and ear abnormalities.[14][35]

INVESTIGATIONS

There are no differentiating tests; diagnosis is based on history and examination.

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

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

A single bushy eyebrow (synophrys), long eye lashes, downturned mouth, high arched palate, and short limbs.[35][56]

INVESTIGATIONS

Genetic analysis may show mutations in the NIPBL and SMC1A genes.

Maternal phenylketonuria

SIGNS / SYMPTOMS
INVESTIGATIONS
SIGNS / SYMPTOMS

Small, upturned nose, round face, and a prominent glabella.[35][56]

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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