Clinical features Van Maldergem Syndrome Aicardi Syndrome Present Patient
Both sexes affected +
Severe face dysmorphisms (i.e. large forehead, flat face – maxillary hypoplasia, hypertelorism, Epicanthal folds, Narrow palpebral fissures, Pear shaped nose, Dental malocclusion, ear abnormalities, small deformed ears)
+
Mild face dysmorphisms (i.e. microphtalmia, prominent premaxilla with upturned nasal tip and sparse lateral eyebrows)
+
+/- (only mild microphtalmia)
Multiple skull abnormalities (i.e. Sclerotic base of the skull, thickened frontal bone maxillary hypoplasia)
+
Skeletal abnormalities (i.e. narrow thorax with short clavicles, limb bone abnormalities [metacarpals, phalanges, others], abnormal pattern of ossification, scoliosis, generalized osteopenia, narrow thorax with short clavicles)
+
+/-
Hyperlaxity of joints +
Camptodactyly and/or palmar, plantar interphalangeal dystonia + +
Respiratory tract malformations (i.e. upper airway obstruction, choanal atresia/stenosis, tracheomalacia) +
Small kidneys +
Chorioretinal lacunae + +
Hearing loss +
Brain asymmetry + +
Abnormal corpus callosum + + +
Subcortical/Periventricular heterotopias + + +
Polymicrogyria + +
Large lateral ventricles + +/-
Reduced volume of pons & cerebellum +
Thin optic nerves +
Drug-resistant epilepsy + +
Infantile Hypotonia + +/-
Developmental delay + + +
Early feeding difficulties +
Genetics
DCHS1 mutations
Mainly unknown. X chromosome anomalies? Somatic Mosaicism? Two cases monogenic (other than X-chromosome)
DCHS1 compound heterozygosis c.7408G>T and c.3512G>A