A 15-year-old female presented to the dentist for prosthetic dental treatment. She was congenitally missing the mandibular incisors and maxillary lateral incisors. She had a normal delivery but was born with short limbs, polydactyly of hands, and a long trunk. Her mother had not been exposed to any radiation or drugs during pregnancy. She had an atrial septal defect. She had normal psychomotor development with an atrophic toe and fingernails. She showed short limb dwarfism with a height of 131 cm, weighed 37 kg, had a long trunk, and thin, sparse hair.
Images from intraoral examination and a panoramic radiograph have been provided. What is the probable diagnosis? *This patient case is from Docplexus Editorial Team for educative purpose only. Source: Naqash TA et al. Case Reports in Dentistry, Volume 2018, Article ID 8631602 The answer has been posted in the comments section. Click here.
