Table 2.

MAJOR CLINICAL FEATURES OF CANTU SYNDROME

Neonatal Features

Neonatal macrosomia

Maternal polyhydramnios

Macrocephaly

Craniofacial dysmorphology

Coarse facial appearance (can be confused with a storage disoder)

Epicanthal folds

Broad nasal bridge

Anteverted nostrils

Long philtrum

Wide mouth with full lips

Macroglossia

High or narrow palate

Gingival hyperplasia

Hair

Congenital generalized hirsutism

Thick scalp hair

Thick and/or curly eyelashes

Excessive hair growth on forehead, face, back and limbs

Cardiovascular

Cardiomegaly

Concentric hypertrophy of the ventricles

Normal ventricular contractility

Pericardial effusion

Pulmonary hypertension

Partial pulmonary venous obstruction

Mitral valve regurgitation

Congenital anomalies

Patent ductus arteriosus

Bicuspid and/or stenotic aortic valve

Skeletal abnormalities

Thickened calvarium

Narrow shoulders and thorax

Pectus carinatum

Broad ribs

Platyspondyly and ovoid vertebral bodies

Hypoplastic ischium and pubic bones

Erlenmeyer-flask-like long bones with metaphyseal flaring

Delayed bone age

Skin and joints

Loose and/or wrinkled skin, especially in neonates

Deep palmar and plantar creases

Persistent fingertip pads

Hyperextensibility of joints

Lymphatic system

Lymphedema, onset usually in adolescence or adulthood

Gastrointestinal

Pyloric stenosis

Increased risk for upper gastrointestinal bleeding