Multiple developmental dental anomalies and hyper mobility type Ehlers-Danlos syndrome

Resident: Roberts
Date: 3/12/10
Article title: Multiple developmental dental anomalies and hyper mobility type Ehlers-Danlos syndrome
Author: Othman, Yassin
Journal: The Journal of Pediatric Dentistry
Year: 2006
Discussion:
Ehlers Danlos syndrome(EDS) is a relatively rare group of heritable connective tissue disorders with a clinical and genetic heterogeneity characterized mainly by articular hypermobility, skin extensibility, and tissue fragility. EDS is caused by disordered fibrillar collagen metabolism due to deficiency of collagen-processing enzymes, dominant-negative effects of mutant-chains, and haploinsufficiency. In this case report, a 15 year old, Jordanian boy was referred to a pediatric clinic for a general assessment of mandibular hypdontia. The family history revealed that he was eight out of ten siblings; and with the exception of a sister who had died of Burkett’s lymphoma at age 10, there was no history of illness or disease among his siblings. His parents appeared to be healthy and normal. The child was in the 3rd percentile for height, 50th percentile for weight. He presented with rather normal physiologic features other than delayed puberty, broad nasal bridge and generalized joint hyper mobility. His medical history presented with a heart murmur that expressed regurgitation, and a number of hormones that were deficient – (FSH), (LH), and free testosterone. Intraorally, he presented with seven teeth that did not erupt: the manibular incisors, mandibular left second premolar, and maxillary second molars. Three mandibular teeth were partially erupted: the right second premolar and second molar, and the left canine ectopically and partially erupting along the midline. Of the primary dentition the manidibular primary left canine was retained, and gave no history of tooth extraction or traumatic loss. The teeth were of normal color, size and form. The patient exhibited class III malocclusion. A panorex showed the absence of permanent mandibular incisors, and pulp stones in all of his permanent teeth. His molars had stunted roots, and his canines were dilacerated. His appeared to have generalized bone loss in the posterior areas of his mouth. None of his sibling showed any signs of dental anomalies.

Assessment: great article and interesting to read.