Achondroplasia with oligodontia: Report of a rare case
A 16-year-old female reported to Department of Oral Medicine and Radiology with the chief complaint of multiple missing teeth. The patient had short stature and walked with an abnormal gait. The patient gave familial history of her mother and sister affected in similar manner. The patient was born to non-consanguineous parents, delivered normally at 8.5 months of gestation. The patient's father reported that she had large and dysmorphic head at the time of birth. The gross motor developmental milestones were delayed significantly, a finding often attributed to the large head of these patients, but fine motor developmental milestones, social and adaptive milestones and language milestones were reportedly normal according to her father.\nThe patient appeared to be well-adjusted, healthy and intelligent. General physical examination showed short stature, with normal trunk length and rhizomelic shortening of the arms and legs []. Lumbar lordosis; prominent buttocks; and short, stubby fingers with trident hand configuration were also evident. Anthropometry (at age 16 years) revealed a height of 124 cm (midparental target height 143.6 cm by Tanner's formula), weight of 42 kg, mesomelic dwarfism with upper limb to lower limb ratio of >1 and an arm span of 100 cm (expected to be 124 cm). The head circumference was 58 cm. Her vital signs were within the normal limits. Systemic examination did not reveal any other abnormality. Extraoral examination revealed facial features such as brachycephaly, midfacial hypoplasia, flat nasal bridge, frontal bossing and competent lips. A concave facial profile was also noticed; however, the mandible appeared normal and the chin was not prominent [].\nIntraoral examination revealed the presence of eight teeth (11, 15, 17, 21, 25, 27, 36 and 46). No abnormality was seen with intraoral soft tissues except for hypertonic lips [].\nOn radiographic examination, her orthopantomogram showed the presence of impacted maxillary canines (13 and 23) and the follicles of all third molars (18, 28, 38 and 48) []. The lateral cephalogram revealed an enlarged calvarium with increased transverse diameter, shortening of the skull base with frontal bossing and a retruded maxilla. The mandible appeared normal however []. The hand-wrist radiograph showed a trident hand configuration []. Based on the history, clinical examination and radiological investigations; a final diagnosis of achondroplasia was made.\nThe patient and her parents were provided with genetic counseling and the generally good prognosis of the condition was emphasized. The patient was then referred to Department of Prosthodontics for further treatment.