The Experts below are selected from a list of 1818 Experts worldwide ranked by ideXlab platform

Bruce R Korf - One of the best experts on this subject based on the ideXlab platform.

Catherine E Keegan - One of the best experts on this subject based on the ideXlab platform.

Kenjiro Kosaki - One of the best experts on this subject based on the ideXlab platform.

  • wide phenotypic variations within a family with sall1 mutations isolated external ear abnormalities to Goldenhar Syndrome
    American Journal of Medical Genetics Part A, 2007
    Co-Authors: Rika Kosaki, Rika Fujimaru, Hazuki Samejima, Hiroshi Yamada, Kosuke Izumi, Kazumoto Iijima, Kenjiro Kosaki
    Abstract:

    We report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a Townes-Brocks Syndrome phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar Syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an epibulbar dermoid. The mother had abnormal external ears but was otherwise structurally normal, and the father was asymptomatic. Analysis of the SALL1 gene revealed that both daughters were heterozygous for nonsense mutation 1256T>A (L419X), that is present 5' to the region encoding the first double zinc finger. The mother was heterozygous for the L419X mutation. The younger daughter is the first patient with a SALL1 mutation to exhibit a classic Goldenhar Syndrome-like phenotype with an epibulbar dermoid. The observation lends further support to the concept that Goldenhar Syndrome is an etiologically heterogeneous disorder that may have a genetic basis in some cases.

Yadavalli Guruprasad - One of the best experts on this subject based on the ideXlab platform.

  • Goldenhar Syndrome with Tessier’s 7 Cleft: Report of a Case
    Journal of Maxillofacial and Oral Surgery, 2015
    Co-Authors: Dinesh Singh Chauhan, Yadavalli Guruprasad
    Abstract:

    Goldenhar Syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar Syndrome, is very rare (

  • Goldenhar Syndrome with tessier s 7 cleft report of a case
    Journal of Maxillofacial and Oral Surgery, 2015
    Co-Authors: Dinesh Singh Chauhan, Yadavalli Guruprasad
    Abstract:

    Goldenhar Syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar Syndrome, is very rare (<5%). The lateral facial cleft, which results because of improper development of the perioral muscles of the face, gives an appearance of macrostomia giving rise to potential psychological, aesthetic and feeding problems. This clinical report describes the closure of a Tessier 7 cleft and the use of distraction osteogenesis to treat mandibular asymmetry in an 11-year-old female patient with Goldenhar’s Syndrome.

  • Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case.
    Journal of maxillofacial and oral surgery, 2011
    Co-Authors: Dinesh Singh Chauhan, Yadavalli Guruprasad
    Abstract:

    Goldenhar Syndrome, a variant of hemifacial microsomia, is a well-known developmental anomaly of maxillofacial skeleton that is apparent at birth. The first and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that may include macrostomia and lateral facial clefts. Though clefts of the orofacial region are among the most common congenital facial defects, the occurrence of lateral facial clefts (Tessier 7 cleft) in conditions such as the Goldenhar Syndrome, is very rare (

Daniela Carvalho - One of the best experts on this subject based on the ideXlab platform.

  • Goldenhar Syndrome with external auditory canal stenosis complicated by canal cholesteatoma and first branchial cleft cyst
    International Journal of Pediatric Otorhinolaryngology Extra, 2007
    Co-Authors: Gregory C Barkdull, Daniela Carvalho
    Abstract:

    Summary This report features a case of Goldenhar Syndrome with congenital left facial nerve paralysis, microtia and external auditory canal stenosis complicated by an external auditory canal cholesteatoma and first branchial cleft cyst. The workup and surgical management of this rare constellation of defects is detailed. The features of this case are instructive as they provide insight into abnormal ear development. Otolaryngologists should retain a high index of suspicion for the presence of congenital cholesteatoma, branchial cleft anomalies and facial nerve abnormalities when evaluating patients with Goldenhar Syndrome.