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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

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