Le nanisme à tête d'oiseau ou syndrome de Seckel. Difficultés nosologiques

Parent, P.; Moulin, Solène; Munck,; Parscau, L. De; Alix, D

doi:10.1016/s0929-693x(96)80011-x

Cited by 16 publications

(3 citation statements)

References 22 publications

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“…Excess osteogenic differentiation of suture mesenchymal cells or defects of stem cells in sutures is usually thought to be the leading cause of craniosynostosis ( Ueharu and Mishina, 2023 ). Interestingly, craniosynostosis has been reported for a group of patients with microcephalic Seckel syndrome ( Parent et al, 1996 ). Here we propose that osteoclast defects might be a novel element contributing to microcephaly in humans upon ninein mutation, in addition to proliferative defects that impact on the overall growth of the body and the brain ( Dauber et al, 2012 ).…”

Section: Discussionmentioning

confidence: 99%

Loss of ninein interferes with osteoclast formation and causes premature ossification

Gilbert,

Gorlt,

Barbier

et al. 2024

eLife

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Ninein is a centrosome protein that has been implicated in microtubule anchorage and centrosome cohesion. Mutations in the human NINEIN gene have been linked to Seckel syndrome and to a rare form of skeletal dysplasia. However, the role of ninein in skeletal development remains unknown. Here, we describe a ninein knockout mouse with advanced endochondral ossification during embryonic development. Although the long bones maintain a regular size, the absence of ninein delays the formation of the bone marrow cavity in the prenatal tibia. Likewise, intramembranous ossification in the skull is more developed, leading to a premature closure of the interfrontal suture. We demonstrate that ninein is strongly expressed in osteoclasts of control mice, and that its absence reduces the fusion of precursor cells into syncytial osteoclasts, whereas the number of osteoblasts remains unaffected. As a consequence, ninein-deficient osteoclasts have a reduced capacity to resorb bone. At the cellular level, the absence of ninein interferes with centrosomal microtubule organization, reduces centrosome cohesion, and provokes the loss of centrosome clustering in multinucleated mature osteoclasts. We propose that centrosomal ninein is important for osteoclast fusion, to enable a functional balance between bone-forming osteoblasts and bone-resorbing osteoclasts during skeletal development.

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Section: Discussionmentioning

confidence: 99%

Loss of ninein interferes with osteoclast formation and causes premature ossification

Gilbert,

Gorlt,

Barbier

et al. 2024

eLife

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“…[1] The incidence of this syndrome is less than 1 in 10,000. [256] Krishna et al . in 1994 and Shanske et al .…”

Section: Discussionmentioning

confidence: 99%

“…Its incidence is less than 1 in 10,000 live births with 25% chances of recurrence in subsequent siblings. [256] Nearly 60 cases have been reported till date with only three cases having being administered general anesthesia (GA). We report the first successful palatoplasty done under GA in a child with Seckel syndrome.…”

Section: Introductionmentioning

confidence: 99%

Palatoplasty in a patient with Seckel syndrome

Garg

Uppal

Mittal

et al. 2012

Ann Maxillofac Surg

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We report a rare case of a patient of Seckel syndrome having cleft palate born to nonconsanguineous married parents. This 8-year-old male child underwent successful palatoplasty under general anesthesia. Till date there are approximately 60 cases of Seckel syndrome reported in the literature. The syndrome which has autosomal recessive inheritance is characterized by Intra Uterine Growth Retardation, microcephaly, dwarfism, and bird-like face. The associated features of the syndrome and technical details of surgery and anesthesia are discussed.

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Clinical and genetic heterogeneity of Seckel syndrome

et al. 2002

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Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.

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Le nanisme à tête d'oiseau ou syndrome de Seckel. Difficultés nosologiques

Cited by 16 publications

References 22 publications

Loss of ninein interferes with osteoclast formation and causes premature ossification

Loss of ninein interferes with osteoclast formation and causes premature ossification

Palatoplasty in a patient with Seckel syndrome

Clinical and genetic heterogeneity of Seckel syndrome

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