Key Clinical Message
We reported dental and craniofacial characteristics of a patient with
SJS and severe OSA. These findings demonstrate that children with SJS
could be affected not only on general physical features but also
craniofacial development.
Introduction
Schwartz-Jampel Syndrome (SJS1,
ORPHA:800; OMIM#255800) is a very rare genetic disorder with prevalence
less than 1:1,000,0001. SJS, named after Schwartz and
Jampel (1962)2, is an autosomal recessive disorder
caused by mutations in HSPG2 gene. This gene encodes for
perlecan, a cellular matrix protein regulating muscle contraction and
chondrogenesis.3 A defective HSPG2 gene results
in prominent SJS features of prolonged muscle contraction (myotonia) and
multiple skeletal abnormalities (chondrodysplasia). Facial dysmorphology
is distinctive and rather consistent across
ethnicities.4 There are approximately 130 SJS reports
in the current literature with only a few describing dental findings.
Díaz-Serrano et al .5 delineated oral
manifestations such as dental crowding, high-arched palate, multiple
impacted teeth and TMJ problem found in two siblings with SJS. Mallineniet al .6 reported a Chinese boy with SJS who
presented with bulbous crowns with marked cervical constriction,
amber-brown discoloration, brittle enamel, soft dentine, and severe
attrition in his primary teeth. A macrodontic primary incisor and a
congenitally missing permanent incisor were also described in the same
patient.6 In this paper, we present an 8-year-old male
patient with SJS and severe obstructive sleep apnea (OSA). To the best
our knowledge, this is second SJS case with OSA reported in the
literature after Cook and Borkowski.7 In addition to
oral findings, a craniofacial morphology of this patient will be
presented.