In the guise of a Syndrome !!

This case was referred to the Department of Oral Medicine by a plastic surgeon for the dental evaluation of a swelling in the pre-maxilla. The patient, a 24 year old male complained of a swelling in the upper front teeth region since one year. The swelling was painless and gradually increased in size. No history of trauma was reported.

Syndactyly of the hands, and
hallux valgus with syndactyly of
the feet were seen.
medc3 medc1

General Examination:

  • Co-operative patient, moderately built and nourished, height 4' 8", weighing 43.5 kilos.
  • Vital signs were normal.
  • Abnormal heart sound was noticed, which was later confirmed by a physician as a low pitched P2.
  • Face was asymmetrical because of the swelling, and bilateral cleft lip.
  • Lymph nodes were not palpable.

Local Examination

Extra Oral Exam:

medc4

Swelling of size approximately 3cmx4cm was seen   in the pre-maxilla region. The upper central incisors were also seen in   the swelling, they were rotated and discoloured. On palpation, the   swelling was fluctuant and egg-shell crackling was present at some   areas. Flat and broad nasal bridge was also seen. Hypertelorism was also seen.

Intra Oral Exam:

medc5

The upper lateral incisors were missing on both sides, and the deciduous canines were retained. The rest of the complement of teeth was present. The upper central incisors were found to be non-vital. A cleft was seen in both the primary and secondary palate which included the soft palate.

Investigations:

  • Lateral Cephalograph
  • Orthopatomograph
  • Hand-wrist radiograph
  • Chest radiograph

Occlusal radiograph

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Discussion:
The swelling was diagnosed as a cyst of dental origin. The hurdle is that of diagnosing the other developmental anamolies which are definitely of genetic origin. It could be either a simple genetic disorder inherited by Mendelian laws, or it could be a multi-factorial genetic disorder, i.e., partly genetic, and partly environmental.

History of consanguinity in this case strenghtens the arguement towards a single gene disorder, but the siblings being normal, suggests the possibility that the environment, i.e., the possibility of a teratogenic agent being used by the mother, could be the cause. Of course, even in single gene disorders, it is not necessary that all siblings will be affected. The fact that the disorder is rare provides no consolation to the victim.

So, What Could This Be ?
Literature review does not conclusively relate it to any known syndromes.
Could This Be a New Syndrome ??
Because of technical hurdles, a very elaborate investigation into the genetical aspect of the condition was not possible.

Provisionally, it has been classified under Q 87.08 of the International Classification of Diseases of Dentistry and Stomatology ( ICD-DA ) classification.

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