Craniofacial and dental findings in cystinosis.
OBJECTIVE
Cystinosis is a rare autosomal recessive lysosomal storage disorder with developmental and mineralization anomalies as part of its clinical presentation. The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis.


METHODS
Oral and radiographic evaluations were performed on 73 patients with cystinosis. Analyses of cephalometry (n = 20), taurodontism (n = 47), caries (n = 47), enamel defects (n = 48), soft tissue anomalies (n = 48), and dental age (n = 41) were performed on the cystinosis group, and compared with age- and sex-comparable controls or standards.


RESULTS
Cystinosis patients manifested relative mandibular deficiency, an increased facial height, and a reduced airway space. Taurodontism and enamel defects were significantly more prevalent in cystinosis patients compared with controls (P < 0.0001 and P = 0.027, respectively). Children (aged <15 years) with cystinosis also demonstrated a significant delay, of almost 9 months, of their dental development (P < 0.001).


CONCLUSIONS
Novel craniofacial and dental features are associated with cystinosis. Craniofacial deficiencies may influence the swallowing and respiratory complications seen in cystinosis. Renal pathology and associated mineral imbalance may explain the dental root and enamel anomalies found in cystinosis patients; the developmental delays in cystinosis include delayed dental formation.
National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA. bassimc@mail.nih.gov
C W
CW
Bassim
P
P
Gautam
D L
DL
Domingo
J Z
JZ
Balog
J P
JP
Guadagnini
W A
WA
Gahl
T C
TC
Hart
D000293:Adolescent; D000328:Adult; D000366:Age Determination by Teeth; D000848:Anodontia / Q000175:diagnosis / Q000209:etiology; D016022:Case-Control Studies; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000209:etiology; D003554:Cystinosis / Q000150:complications*; D004245:DMF Index; D003731:Dental Caries / Q000175:diagnosis / Q000209:etiology; D003743:Dental Enamel / Q000002:abnormalities; D003786:Dental Pulp Cavity / Q000002:abnormalities; D005260:Female; D005929:Glossitis, Benign Migratory / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities; D009805:Odontogenesis / Q000502:physiology; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000209:etiology; D014092:Tooth Root / Q000002:abnormalities; D014716:Vertical Dimension; D055815:Young Adult