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Oro-facial-digital syndrome type I: a case report with novel features
Syed, Shaheen; Sawant, Poonam Ramnath; Spadigam, Anita; Dhupar, Anita.
  • Syed, Shaheen; Goa Dental College & Hospital. Department of Oral and Maxillofacial Pathology. Bambolim. IN
  • Sawant, Poonam Ramnath; Goa Dental College & Hospital. Department of Oral and Maxillofacial Pathology. Bambolim. IN
  • Spadigam, Anita; Goa Dental College & Hospital. Department of Oral and Maxillofacial Pathology. Bambolim. IN
  • Dhupar, Anita; Goa Dental College & Hospital. Department of Oral and Maxillofacial Pathology. Bambolim. IN
Autops. Case Rep ; 11: e2021315, 2021. tab, graf
Article in English | LILACS | ID: biblio-1285394
ABSTRACT
Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient. Interestingly, our patient presented with a few novel hitherto unreported clinical findings like midline pits in the philtrum area and a hamartomatous proliferation of tissue in the anterior maxillary alveolar gingival region. This case report highlights the importance of prudent histopathological-clinical correlation, which can direct the flow of clinical investigations leading to the detection and diagnosis of unsuspected conditions as learned in this case. We would also like to emphasize that comprehensive examination of new born for structural abnormalities of the orofacial region is crucial to early diagnosis of syndromes and subsequent referral for further evaluation and management.
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Full text: Available Index: LILACS (Americas) Main subject: Palatal Neoplasms / Hamartoma Type of study: Diagnostic study / Screening study Limits: Adult / Female / Humans Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2021 Type: Article Affiliation country: India Institution/Affiliation country: Goa Dental College & Hospital/IN

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Full text: Available Index: LILACS (Americas) Main subject: Palatal Neoplasms / Hamartoma Type of study: Diagnostic study / Screening study Limits: Adult / Female / Humans Language: English Journal: Autops. Case Rep Journal subject: Anatomia / Patologia Cl¡nica / Patologia Legal Year: 2021 Type: Article Affiliation country: India Institution/Affiliation country: Goa Dental College & Hospital/IN