Oral-Facial-Digital Syndrome in an Indian Child

Abstract Oral-facial-digital syndromes (OFDSs) are a rare heterogeneous group of genetic disorders characterized by a spectrum of craniofacial, oral, and digital anomalies. A 3-month-old female patient presented with facial milia, cleft lip and palate, nodule over the tongue, and syndactyly of digits and was diagnosed with OFDS type 1, a subtype of the syndrome, based on distinctive oral, facial, and digital features. This case report adds to our understanding of this rare condition and emphasizes the significance of the dermatologist’s and oral clinician’s roles in the multidisciplinary approach needed for early diagnosis, treatment, and follow-up in OFDS cases.

Authors

Institutions

Publication Details

Journal
Indian Journal of Paediatric Dermatology
Published
2024-10-01
DOI
https://doi.org/10.4103/ijpd.ijpd_81_24
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Oral-Facial-Digital Syndrome in an Indian Child

Sumedha Ballal, Mary Augustine, Sanjanaa Srinivasa
Indian Journal of Paediatric Dermatology
Genetic and Kidney Cyst Diseases
article

Oral-Facial-Digital Syndrome in an Indian Child

Sumedha Ballal, Mary Augustine, Sanjanaa Srinivasa
article en

Abstract

Abstract Oral-facial-digital syndromes (OFDSs) are a rare heterogeneous group of genetic disorders characterized by a spectrum of craniofacial, oral, and digital anomalies. A 3-month-old female patient presented with facial milia, cleft lip and palate, nodule over the tongue, and syndactyly of digits and was diagnosed with OFDS type 1, a subtype of the syndrome, based on distinctive oral, facial, and digital features. This case report adds to our understanding of this rare condition and emphasizes the significance of the dermatologist’s and oral clinician’s roles in the multidisciplinary approach needed for early diagnosis, treatment, and follow-up in OFDS cases.

Indian Journal of Paediatric DermatologyVol. 25(4)
St.John's Medical College Hospital (IN)
Openalex Percentile: Top 74%
Genetic and Kidney Cyst Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.