1/5. Neuropsychiatric aspects of sotos syndrome. A review and two case illustrations.sotos syndrome, also known as cerebral gigantism, is a rare growth disorder first described by Sotos and colleagues in 1964. Since then, a majority of the literature pertaining to sotos syndrome has focussed on the medical aspects of the syndrome, while neuropsychiatric issues have been given little attention. The present article presents a review of the current knowledge concerning neuropsychiatric aspects of sotos syndrome. Information is provided relating to physical appearance, intellectual impairment, learning disabilities, language impairments, behavioural disorders and outcome. It is emphasised that careful delineation of neuropsychiatric aspects within a diagnostic syndrome may turn out to be the first step towards molecular characterisation of behaviour.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. A case of sotos syndrome (cerebral gigantism) and psychosis.sotos syndrome, or cerebral gigantism, is a syndrome of accelerated growth during early childhood, and a number of craniofacial and other physical abnormalities are commonly present. Behavioral and psychiatric manifestations of the disorder include attention deficits, aggressiveness, and social inhibition. The authors describe a case of psychosis that developed in a patient with sotos syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/5. A case of cerebral gigantism and hepatocarcinoma.A 14-year-old boy, who had the physical and neurological characteristics of cerebral gigantism (sotos syndrome), developed hepatocarcinoma. This tumor is rare in children and has never, to our knowledge, been recorded in a patient with cerebral gigantism. An autopsy was performed, the first we are aware of in a patient with cerebral gigantism without increased size in ventricles.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/5. In utero diagnosis of benign fetal macrocephaly.Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/5. A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.We report on a new X-linked recessive syndrome in 2 unrelated families, consisting of pre- and postnatal growth excess, typical facial phenotype allowing diagnosis at birth, and usually normal physical and intellectual development. The minor anomalies seen at birth include a "coarse" face with wide nasal bridge, short nose with upturned nasal tip, wide open mouth, thick lips, midline depression of the lower lip, enlarged tongue, highly arched palate, large maxilla and jaw, and a short broad neck. voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad short hands and feet, and in some cases preauricular dimples, abnormal ears, postaxial hexadactyly, hypoplastic index finger nails, and abnormal dermatoglyphics. Early postnatal death is frequent and pathogenetically unexplained. During infancy and childhood the leading manifestations are the overgrowth (greater than 97th centile), striking facial appearance, hypodontia and/or malposition of teeth, genua valga, hypoplastic calf muscles, and clumsiness. adolescent and adult patients have well proportioned "gigantism" of athletic build (192-210 cm), large "coarse" face, and a deep voice. General intellectual and motor development are either normal or mildly delayed. Results of routine laboratory tests are normal, as are growth hormone and IGF I levels and chromosomes. Pathogenesis remains unknown. Heterozygotes may show some of the characteristic facial changes.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |