Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?

• Published in: Journal of oral pathology & medicine Vol. 35; no. 10; pp. 639 - 641
• Main Authors: De Coster, P. J., Verbeeck, R. M. H., Holthaus, V., Martens, L. C., Vral, A.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2006; Blackwell
• Subjects: Abnormalities, Multiple; Adolescent; Anodontia - diagnostic imaging; Anodontia - pathology; Biological and medical sciences; Dental Enamel Hypoplasia - diagnostic imaging; Dental Enamel Hypoplasia - pathology; Dentin - abnormalities; dentin dysmineralization; Dentistry; Dwarfism; Facies; histology; Humans; Male; Medical sciences; microdontia; Otorhinolaryngology. Stomatology; Phenotype; Radiography; Seckel syndrome; Syndrome; tooth agenesis; Tooth Demineralization - diagnostic imaging; Tooth Demineralization - pathology; Tooth Eruption; Dentin; Hypoplasia; Agenesis; Microdontia; Stomatology; Diseases of the osteoarticular system; Teeth; Seckel syndrome; Histology; ENT; dentin dysmineralization; Variant; Tooth enamel; Association; Malformation; tooth agenesis; Tooth
• ISSN: 0904-2512; 1600-0714
• DOI: 10.1111/j.1600-0714.2006.00462.x

Seckel syndrome (SCKL) [OMIM Entry 210600] is a rare, autosomal recessive syndrome, characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird‐headed). Associated findings may include limb anomalies, dislocation of femoral heads, scoliosis, and gastrointestinal malformation. A 14‐year‐old boy is presented with brain hypoplasia, pachygyria, hydrocephaly, enamel hypoplasia and root dysplasia in the temporary dentition, and oligodontia, severe microdontia, and delayed eruption of the permanent dentition. The association of SCKL with the above unusual dental findings may represent a new phenotype.