Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located at chromosome 5q35, are responsible for most of the cases. We describe a six-year old boy who had tall ...

The amygdala is thought to be part of a neural system responsive to potential threat (1). Consistent with this is the amygdala’s well-documented sensitivity to fear faces. What is puzzling, however, is the paucity of evidence for a similar involvement of the amygdala in the processing of anger displays. To address this apparent anomaly, researchers have speculated that the amygdala is involved ...

Oblique facial clefts are extremely rare congenital deformities. Partial duplication of maxilla is a rare isolated anomaly. The concurrent existence of maxillary duplication and Tessier clefts has been described previously, specially the Tessier 7 clefts. In presented case, partial duplication of maxilla has occurred associated with Tessier 3 and incomplete Tessier 6 cleft along with cleft pala...

Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which i...

Two hundred and eighty six cases of cleft lip, cleft palate, or both were identified in a study attempting complete ascertainment of babies with facial clefts born to women resident in the west of Scotland in a five year period beginning 1 January 1980. The total birth prevalence (TBP) of these defects over this period was 1.53 per 1000. The TBP for cleft lip with or without cleft palate (CL[P]...

BACKGROUND AND OBJECTIVES Pallister-Killian Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome 12. There is little information about PKS in the anesthetic literature. This report aimed at discussing aspects of this syndrome that may be relevant to anesthesia. CASE REPORT A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopeci...

Vertical maxillary excess (VME) is frequently referred to as one variation of maxillo-mandibular discrepancy, which is often identified by excessive display of incisors and gingiva during smiling. This anomaly is corrected surgically by superior maxillary impaction, which can be combined by other procedures such as, anterior maxillary segmental osteotomy to relieve the maxillary protrusion, or ...

abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...

introduction: we present a retrospective two-center study series and discussion of the current literature to assess the benefits of facial nerve monitoring during parotidectomy. materials and methods: from 2007 to 2012, 128 parotidectomies were performed in 125 patients. of these, 47 procedures were performed without facial nerve monitoring (group 1) and 81 with facial nerve monitoring (group 2...