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Table 1 Characteristics of Van Maldergem Syndrome

From: A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia


 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


Limb anomalies


 Palmar/plantar interphalangeal webbing

 Short metacarpals & phalanges

 Hyperlaxity of joints


 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


 Generalized osteopenia

MRI brain findings

 Thin optic nerves

 Abnormal corpus callosum

 Periventricular heterotopia

 Large lateral ventricles

 Reduced volume of pons & cerebellum