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 |