Cleft lip and palate: association with other congenital malformations

Soraya Beriaghi1, Sandra L Myers, Scott A Jensen

  • 1Cleft Palate and Craniofacial Clinic, Division of Pediatric Dentistry School of Dentistry, University of Minnesota, Minneapolis, MN 55455, USA. beira001@umn.edu

Insights

Orofacial clefts often accompany other congenital anomalies. This study found 32.2% of patients had associated malformations, most frequently in the orofacial region, highlighting the need for comprehensive evaluation.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Developmental Biology

Background:

  • Orofacial clefts are common congenital conditions.
  • These conditions are frequently linked with other birth defects.
  • Understanding the spectrum of associated anomalies is crucial for patient care.

Purpose of the Study:

  • To investigate the prevalence and types of congenital malformations associated with orofacial clefts.
  • To analyze differences in associated anomalies between cleft palate only (CP) and cleft lip with or without cleft palate (CL +/- P) patient groups.

Main Methods:

  • Retrospective review of 1127 patients' medical records from a major research hospital's Cleft Palate/Craniofacial Clinic (1980-2000).
  • Patients were classified into CP or CL +/- P groups.
  • Associated malformations were categorized by location, type, and whether they were chromosomal/syndromic or non-chromosomal/syndromic.

Main Results:

  • 32.2% of all patients with orofacial clefts exhibited associated congenital malformations.
  • The orofacial region was the most common site for anomalies, followed by cardiovascular, central nervous, and skeletal systems.
  • Congenital malformations were more prevalent in patients with cleft palate only (38.7%) compared to cleft lip +/- palate (26.4%). 63.1% of diagnosed malformations were chromosomal/syndromic.

Conclusions:

  • A significant proportion of orofacial cleft patients present with associated congenital malformations.
  • The orofacial region is the most commonly affected site.
  • Identifying these associated anomalies is vital for guiding further diagnostic tests and genetic counseling.
Abstract

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