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Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome
I Kjaer1, N Hansen, K B Becktor
1Department of Orthodontics, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK-2000 Copenhagen, Denmark. inger.kjaer@odont.ku.dk
Insights
Seckel syndrome affects bone development and growth, causing significant craniofacial and skeletal abnormalities, but does not impede normal dental maturation or eruption in affected siblings.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Biology
Background:
- Seckel syndrome is a rare genetic disorder characterized by severe growth retardation and microcephaly.
- Affected individuals often present with distinctive craniofacial features and intellectual disability.
Purpose of the Study:
- To detail the craniofacial morphology, dentition, and hand maturity in four siblings diagnosed with Seckel syndrome.
- To investigate the impact of the Seckel syndrome gene defect on skeletal and dental development.
Main Methods:
- Radiographic analysis of skeletal and dental development.
- Cephalometric analysis of profile radiographs.
- Clinical examination of four siblings with Seckel syndrome.
Main Results:
- Significant craniofacial abnormalities including a short anterior cranial base and maxillary length.
- Normal tooth maturation but presence of tooth agenesis, malformations, and taurodontism in girls.
- Marked skeletal maturation delay and specific hand-wrist malformations.
Conclusions:
- The genetic defect in Seckel syndrome primarily impacts bone development and growth.
- Dental maturation and eruption appear unaffected by the underlying gene defect.
Objective:
To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome.
Patients:
Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal.
Methods:
Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs.
Results:
The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger.
Conclusion:
The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.