Table 1.

Characteristics of Van Maldergem Syndrome

Neurodevelopmental

Infantile hypotonia  Developmental delay

Feeding difficulties early

Craniofacial features

Large forehead  Flat face – maxillary hypoplasia  Hypertelorism, Epicanthal folds  Narrow palpebral fissures  Pear shaped nose  Dental malocclusion

Ear abnormalities

Small deformed ears  Hearing loss

Upper airway obstruction

Choanal atresia/stenosis  Tracheomalacia

Limb anomalies

Camptodactyly  Palmar/plantar interphalangeal webbing  Short metacarpals & phalanges  Hyperlaxity of joints

Genitourinary

Hypospadias in one male  Small kidneys

Radiological features

Sclerotic base of the skull  Thickened frontal bone  Maxillary hypoplasia  Narrow thorax with short clavicles  Limb bone abnormalities (metacarpals, phalanges, others)  Abnormal pattern of ossification  Scoliosis  Generalized osteopenia

MRI brain findings

Thin optic nerves  Abnormal corpus callosum  Periventricular heterotopia  Large lateral ventricles  Reduced volume of pons & cerebellum