Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

摘要: The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by heterozygous interstitial deletion of chromosome 17p11.2. phenotype characterized distinct pattern features including infantile hypotonia, generalized complacency lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) craniofacial features, ocular abnormalities, middle ear laryngeal abnormalities hoarse voice, as well marked early expressive speech language delays, psychomotor growth retardation, 24-hour sleep disturbance. A striking neurobehavioral stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive self-injurious aggressive behavior observed with increasing age. diagnosis based upon the clinical recognition constellation physical, developmental, behavioral combination inverted circadian rhythm melatonin secretion. Many are subtle infancy childhood, become more recognizable advancing Infants described looking "cherubic" Down syndrome-like appearance, whereas age facial appearance that relative prognathism. Early requires awareness often infant period. Speech delay or without hearing loss common. Most children diagnosed mid-childhood when most striking. While improvements cytogenetic analysis help to bring cases at an earlier age, this review seeks increase about presenting salient different ages descriptions neurologic features. Detailed disturbance unique presented. Suggestions for management difficulties discussed context authors' personal experience setting ongoing natural history study.