I Kjaer1, N Hansen, K B Becktor, N Birkebaek, T Balslev. 1. Department of Orthodontics, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK-2000 Copenhagen, Denmark. inger.kjaer@odont.ku.dk
Abstract
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.
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.
Authors: Gabriel Balmus; Min Zhu; Sucheta Mukherjee; Amy M Lyndaker; Kelly R Hume; Jaesung Lee; Mark L Riccio; Anthony P Reeves; Nathan B Sutter; Drew M Noden; Rachel M Peters; Robert S Weiss Journal: Hum Mol Genet Date: 2012-05-09 Impact factor: 6.150
Authors: Eva Müller; Desiree Dunstheimer; Jürgen Klammt; Daniela Friebe; Wieland Kiess; Jürgen Kratzsch; Tassilo Kruis; Sandy Laue; Roland Pfäffle; Tillmann Wallborn; Peter H Heidemann Journal: PLoS One Date: 2012-05-31 Impact factor: 3.240
Authors: Rebecca E McIntyre; Pavithra Lakshminarasimhan Chavali; Ozama Ismail; Damian M Carragher; Gabriela Sanchez-Andrade; Josep V Forment; Beiyuan Fu; Martin Del Castillo Velasco-Herrera; Andrew Edwards; Louise van der Weyden; Fengtang Yang; Ramiro Ramirez-Solis; Jeanne Estabel; Ferdia A Gallagher; Darren W Logan; Mark J Arends; Stephen H Tsang; Vinit B Mahajan; Cheryl L Scudamore; Jacqueline K White; Stephen P Jackson; Fanni Gergely; David J Adams Journal: PLoS Genet Date: 2012-11-15 Impact factor: 5.917