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

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

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