CASE STUDY 3

ORO-FACIAL-DIGITAL SYNDROME (TYPE IV)

A 12-year-old boy, born of a co-sanguinous marriage, came to the institute with a complaint of crowding of teeth. The patient showed an obvious deformity of neck; which on questioning was said to be present for the last 5 years. Medical and dental history was non-contributory. Family history revealed several birth defects in patient's mother, sister and some cousins.


Patient's images & examination details:

Clinical Picture

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  1. Facial features: > Facial asymmetry of right side > Low set ears > Inter-canthal distance is unequal > Rhi neck

  2. Digital features: > Long thumbs > Syndactyly: fused skin of fore finger and middle finger > Brachydactyly > Square palm and single palmer crease of right side > Flat feet > Syndactyly: fused skin of 2nd and 3rd metatarsals > Mild hallus valgus

  3. Oral features: > High arched palate > Cleft on the dorsum of the tongue > Congenitally missing maxillary right 2nd premolar > Mal-occlusion: malaligned mandibular anteriors, increased vertical and reduced horizontal overlap anteriorly

  4. Other Associated Features: > Spina bifida, Scoliosis > Sternal groove

Foot & Hand Radiographs
Panoramic Radiograph
PA Radiograph

Patient's mother: images

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Panoramic Radiograph
Foot & Hand Radiographs

Patient's sister: images

Clinical Picture
Panoramic Radiograph
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