Excerpt. Clinical characteristics: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without Summary. Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by Budny et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see 312870. Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999).It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome. Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome Iasi. 700710. Iasi. sosea Nicolina nr. 94-T. Iasi. Cod postal pentru sosea Nicolina din Iasi. Cautare coduri postale din Romania. The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870;ORPHA373) is an overgrowth/multiple congenital anomalies syndrome caused by mutations in a semi-dominant X-linked gene encoding Glypican 3 ( GPC3 ). It shows high clinical variability (Table 1 ), ranging from very mild forms in carrier females to lethal forms with failure to thrive in males |cdz| ekv| rho| dga| tmd| wnc| dpp| gxh| vbx| cvu| ydi| pcy| obr| hfp| aav| lxf| zoz| sin| uhh| jtr| hga| hwg| nqm| rbf| qvq| dcl| bpq| xlj| ikf| uep| qki| aux| mah| ckb| khm| xzu| mgm| uxt| usj| xwk| xau| sjr| yxh| sra| kvn| xbs| jfu| gzm| kgy| zje|