Presentation
Advanced bone age may be present in 76 to 86% of the patients and is helpful but not specific. Brain abnormalities are present in 60 to 80% of patients, such as communicating hydrocephalous, and others, but are not diagnostic and are non-specific. [rarediseases.org]
Case presentation We present a patient with Sotos syndrome who is harboring a sacral lipoma and tethered cord syndrome and she had growth retardation, frontal bossing and hypertelorism. [bmcpediatr.biomedcentral.com]
There was no similar presentation of this syndrome in his family and his parents were nonconsanguineous. Patient's family pedigree is shown in Figure 2. [journals.lww.com]
These features are each present in over 90% of individuals with Sotos syndrome (Table 1).10 Table 1 Cardinal and associated features of Sotos syndrome Full size table The facial appearance is most distinctive between 1 and 6 years and consists of a high [nature.com]
Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]
Entire Body System
- Poor Feeding
Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. [medlineplus.gov]
Workup
Serum
- Karyotype Abnormal
Abnormal A2 chromosome Abnormal «C12» chromosome Cytogenetics Brain Family study Cerebral gigantism Genetic disease Malformation Male Infant Reciprocity Complex syndrome Nervous system diseases Chromosome translocation Abnormal chromosome Chromosomal [pascal-francis.inist.fr]
Treatment
Standard Therapies Treatment The treatment of Sotos syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Prevention
Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. [medlineplus.gov]