Median cleft of the upper lip in association with bilateral hexadactyly and accessory toes

Khoo, C.T.K.; Saad, Maxime

doi:10.1016/0007-1226(80)90103-4

Cited by 16 publications

(4 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This type represents the mildest form within the OFDS group. It is characterized by midline cleft lip and postaxial polydactyly, and it has been reported exclusively in individuals of Indian ethnicity [Thurston, 1909; Khoo and Saad, 1980; Gopalakrishna and Thatte, 1982; Valiathan et al, 2006].…”

Section: Types Of Oral–facial–digital Syndromesmentioning

confidence: 99%

Oral–facial–digital syndromes: Review and diagnostic guidelines

Gurrieri

Franco

Toriello

et al. 2007

American J of Med Genetics Pt A

138

139

View full text Add to dashboard Cite

The oral-facial-digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed.

show abstract

Section: Types Of Oral–facial–digital Syndromesmentioning

confidence: 99%

Oral–facial–digital syndromes: Review and diagnostic guidelines

Gurrieri

Franco

Toriello

et al. 2007

American J of Med Genetics Pt A

138

139

View full text Add to dashboard Cite

show abstract

“…Since then only a few cases have been reported. Dysmorphic features reported in the subsequent case reports include, duplication or hyperplasia of the frenulum, high arched palate, enamel hypoplasia, hypodontia, supernumerary teeth and clinodactyly, brachydactyly and syndactyly of digits 1,[3][4][5][6][7][8][9][10] . Even though the exact genetic basis has not been established, Thurston syndrome is believed to be due to autosomal recessive mutations in the DDX59 gene in chromosome 1 11 .…”

Section: Discussionmentioning

confidence: 99%

A Sri Lankan boy with Thurston syndrome (type V oro-facio-digital syndrome)

Athapathu

Aruppala

Hoole

et al. 2021

Sri Lanka J Child Health

View full text Add to dashboard Cite

“…Interestingly, the polydactyly was also limited to the right hand. Most of the reported cases have presented with bilateral polydactyly, sometimes in both the hands and the feet (Khoo and Saad, 1980; Gopalakrishna and Thatte, 1982; Christophorou and Nicolaidou, 1983). The other variations of OFDS that present with preaxial polydactyly in hands are type X and type XII (Franco and Thauvin-Robinet, 2016).…”

Section: Discussionmentioning

confidence: 99%

Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?

Jain

Singh

2019

The Cleft Palate-Craniofacial Journal

View full text Add to dashboard Cite

Oral-facial-digital syndromes are a group of disorders with various subtypes. Type V, also known as the Thurston syndrome, is an autosomal recessive condition characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations. Majority of the cases reported in the literature have been of Indian ethnic origin. We report a case of a possible variation of this syndrome in a 5-month-old Indian girl who presented with severe midline clefting, cleft palate, and atypically, preaxial polydactyly of the right hand.

show abstract

Median cleft of the upper lip in association with bilateral hexadactyly and accessory toes

Cited by 16 publications

References 1 publication

Oral–facial–digital syndromes: Review and diagnostic guidelines

Oral–facial–digital syndromes: Review and diagnostic guidelines

A Sri Lankan boy with Thurston syndrome (type V oro-facio-digital syndrome)

Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?

Contact Info

Product

Resources

About