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Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume

M Larralde de Luna1, M L Raspa, J Ibargoyen

  • 1Section of Pediatric Dermatology, Hospital José María Ramos Mejía, Buenos Aires, Argentina.

Pediatric Dermatology
|March 1, 1992
PubMed

Insights

Oral-facial-digital syndrome (OFDS) type 1 presents with distinct oral, facial, and digital anomalies. This case highlights a female infant with OFDS type 1, normal development, and alopecia.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Clinical Dysmorphology

Background:

  • Oral-facial-digital syndrome (OFDS) encompasses a group of rare genetic disorders characterized by malformations of the oral cavity, face, and digits.
  • OFDS type 1 is the most common subtype, primarily affecting females, and is associated with a wide spectrum of clinical features.

Observation:

  • A female infant presented with a constellation of oral, facial, and digital anomalies consistent with OFDS type 1.
  • Oral findings included cleft palate, bifid uvula, lingual cleft, and hypertrophic frenula.
  • Facial features comprised milia, frontal bossing, hypertelorism, hypoplastic nasal alar cartilage, and micrognathia.
  • Digital anomalies involved bilateral brachydactyly of the hands.
  • Additional findings included diffuse, nonscarring alopecia with wiry, dry hair.

Findings:

  • Diagnostic imaging (roentgenography and ultrasound) revealed no abnormalities.
  • The infant's psychomotor development at 11 months was age-appropriate, despite the syndromic features.

Implications:

  • This case underscores the phenotypic variability within OFDS type 1.
  • Early identification and monitoring of developmental milestones are crucial for managing infants with OFDS.
  • Further research into the genetic underpinnings and long-term outcomes of OFDS type 1 is warranted.

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