A 5-year-old girl reported to the clinic with a complaint of teeth becoming loose and exfoliating spontaneously. She was one of the two affected siblings born at full term with an unremarkable perinatal period to a consanguineous couple. The patient had recurrent fever attacks and suffered mild mental subnormality.
History Hip dislocation at the age of one month Secondary osteomyelitis at the age of 2.5 years Physical appearance She had a long face, hairy forehead, and eyebrows. Trichomegaly Broad nose Hypotonia Palmoplantar hyperkeratosis (Cover image C and D) Oral examination Thin atrophic lower alveolar ridge Atrophic ulcerated tongue Enamel hypoplasia (Cover image A) Multiple scares in the perioral region (Cover image B) Radiological examination Loss of all lower erupted teeth (Cover image E) Mild acro-osteolysis in hands Source : Journal of Pediatric Genetics ##Disclaimer## The…
