Radiological findings in the hand in seckel syndrome (bird-headed dwarfism)

Poznanski, Andrew K.; Iannaccone, G; Pasquino, A. M.; Boscherini, B

doi:10.1007/bf00975661

Cited by 21 publications

(11 citation statements)

References 7 publications

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“…Recently, D'Angelo and Di Bartolomeo reported two cases of SCKL with intracranial anomalies, suggestive of MOPDII diagnosis 14 15. Similarly, SCKL patients with bone dysplasia suggestive of MOPDII have been reported 16 17. From our study, we suggest that the MOPDII spectrum is wider than previously defined.…”

Section: Discussionsupporting

confidence: 56%

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Willems

Geneviève

Borck

et al. 2009

Journal of Medical Genetics

100

104

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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.

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Section: Discussionsupporting

confidence: 56%

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Willems

Geneviève

Borck

et al. 2009

Journal of Medical Genetics

100

104

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“…Majewski et al [1982b] also described the characteristic facial features and the progressive bony dysplasia. Poznanski et al [1983] clarified the radiological changes of two affected individuals who had been reported previously by Pasquino and Iannaccone [1978] and again by Boscherini et al [1981]. Willems et al [1987] reported a family with consanguinity and suggested that there might be an autosomal recessive basis for the disorder and Verloes et al [1987] reported another consanguineous family with two affected siblings.…”

Section: Historical Perspectivementioning

confidence: 49%

“…Review of the literature produced 27 cases [Brizard et al, 1973;Anoussakis et al, 1974;Pasquino and Iannaccone, 1978; reported again by Boscherini et al, 1981;Majewski et al, 1982a;Toudic et al, 1983;and by Poznanski et al, 1983;Verloes et al, 1987;Willems et al, 1987;Herman et al, 1991;Shebib et al, 1991; reported again by Théau and Maroteaux, 1993;Al Gazali et al, 1995, Masuno et al, 1995Spranger et al, 1996;D'Angelo et al, 1998;Halder et al, 1998;Majewski and Goecke, 1998;Tekin et al, 2000;Fukuzawa et al, 2002;Kantaputra, 2002;Nishimura et al, 2003] with sufficient clinical and natural history information to be sure of the diagnosis and to contribute to defining the frequency of various features. The authors of the articles were recontacted to update clinical information and to provide additional comments on features not mentioned in the original reports.…”

Section: Methodsmentioning

confidence: 96%

“…All together at least 26 reports of affected individuals have been published in the medical literature [Brizard et al, 1973;Anoussakis et al, 1974;Pasquino and Iannaccone, 1978;Boscherini et al, 1981;Tsuchiya et al, 1981;Majewski andGoecke, 1982, 1998;Majewski et al, 1982b;Poznanski et al, 1983;Toudic et al, 1983;Verloes et al, 1987;Willems et al, 1987;Herman et al, 1991;Shebib et al, 1991;Sugio et al, 1993;Théau and Maroteaux, 1993;Al Gazali et al, 1995;Masuno et al, 1995;Spranger et al, 1996;D'Angelo et al, 1998;Halder et al, 1998;Tekin et al, 2000;Fukuzawa et al, 2002;Kantaputra, 2002;Seymen et al, 2002;Nishimura et al, 2003], in which 27 affected individuals have sufficient clinical information on natural history to be included in this report. This report describes the natural history of MOPD II based on the 27 published cases and 31 additional unpublished affected individuals.…”

Section: Introductionmentioning

confidence: 97%

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Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Hall

Flora

Scott

et al. 2004

American J of Med Genetics Pt A

137

236

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A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family.

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“…Hand radiographs taken 4 years apart demonstrated that most of ivory epiphyses disappear as the patients aged. These age-related phenomena are similar to those of Seckel syndrome [Poznanski et al, 1983]. The reported patients share many features with an MOPD patient who was reported to have long and slender clavicles, ivory epiphyses, cone-shaped epiphyses, dislocated hip, with abnormal dental development [Shebib et al, 1991].…”

Section: Discussionmentioning

confidence: 73%

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

Kantaputra

2002

Am. J. Med. Genet.

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A Thai man and his sister affected with a newly recognized syndrome of proportionate primordial short stature are reported. The patients had severe intrauterine and postnatal growth retardation, prominent nose and nasal bridge, small pinnae, large sella turcica, areas of hypo- and hyperpigmentation of skin, dry and thin scalp hair, and long and straight clavicles. Ivory epiphyses and cone-shaped epiphyses of the hands were found when they were young, but most of them disappeared as they grew up. Scaphoid and trapezium had angular appearance. The second toes were unusually long. Distal symphalangism of toes and barchymesophalangy of fingers were noted. The findings that appear to distinguish this syndrome from the previously reported syndromes are long second toes, opalescent and rootless teeth, severe microdontia, severely hypoplastic alveolar process, and unerupted tooth. The mode of inheritance is suspected to be autosomal recessive.

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Radiological findings in the hand in seckel syndrome (bird-headed dwarfism)

Cited by 21 publications

References 7 publications

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

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