Oro-fazio-digitales Syndrom - eine neue Formvariante?

Degner, Detlef; Bleich, Stefan; Riegel, Arthur C.; Rüther, E.

doi:10.1055/s-2007-995229

Cited by 11 publications

(1 citation statement)

References 4 publications

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“…So far, 13 subtypes have been described according to the mode of inheritance and the involvement of the other organs and systems (eye, brain, tibia, skeletal changes, and presence of millia) [4]. However, classification into the subtypes is not always easy or clear, and additional subgroups have been proposed [5–7]. Only OFD syndrome type 1, which represents only a small portion of all OFD syndromes, has an established genetic defect so far [8,9].…”

Section: Introductionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

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The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

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Section: Introductionmentioning

confidence: 99%

The Many Faces of Oral-Facial-Digital Syndrome

Sukarova-Angelovska

Angelkova²,

Palcevska-Kocevska

et al. 2012

Balkan Journal of Medical Genetics

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Oral–facial–digital syndromes: Review and diagnostic guidelines

Gurrieri

Franco

Toriello

et al. 2007

American J of Med Genetics Pt A

135

134

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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.

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A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

Souich

Austin

Friedlander

et al. 2009

American J of Med Genetics Pt A

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Psychiatric disease occurs with increased frequency in a number of malformation syndromes. We hypothesize that the study of these disorders is helpful for understanding the pathophysiology of psychiatric disease. With this objective, we have been screening for individuals with malformations and prominent psychiatric disease. We report on a man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet. His distinctive features define an undescribed acro-auricular malformation syndrome with a psychiatric component. The study of Mendelian syndromes such as the one presented will likely be helpful for isolating novel genes involved in psychiatric illness.

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Oro-fazio-digitales Syndrom - eine neue Formvariante?

Cited by 11 publications

References 4 publications

The Many Faces of Oral-Facial-Digital Syndrome

The Many Faces of Oral-Facial-Digital Syndrome

Oral–facial–digital syndromes: Review and diagnostic guidelines

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

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