A new Seckel‐like syndrome of primordial dwarfism

Buebel, Michael S.; Salinas, Carlos F.; Pai, G. Shashidhar; Macpherson, R. I.; Greer, Margaret K.; Perez‐Comas, Adolfo

doi:10.1002/(sici)1096-8628(19960823)64:3<447::aid-ajmg1>3.3.co;2-w

Cited by 8 publications

(9 citation statements)

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“…Under this hypothesis, LB1 would have a short stature with microcephaly syndrome in which both body size and brain volume are far below the norms for the extant population. Various syndromes with severe intrauterine growth retardation and proportionate (at least at birth) microcephaly have been described in modern humans, including Bangstad, Bloom, Buebel, de Lange, Dubowitz, Kennerknecht, Meier-Gorlin, Okajima, and Seckel syndromes, as well as Majewski (microcephalic) osteodysplastic primordial dwarfism (MOPD) type 1, MOPD type 2, MOPD-Cervenka type, and MOPD-Toriello type (Toriello et al, 1986;Bangstad et al, 1989;Opitz and Holt, 1990;Meinecke et al, 1991;Lin et al, 1995;Buebel et al, 1996;Bongers et al, 2001;Silengo et al, 2001;Faivre et al, 2002;Okajima et al, 2002;Hall et al, 2004). Several of these syndromes are associated with survival to adulthood.…”

Section: Case For Microcephalymentioning

confidence: 99%

Flores hominid: New species or microcephalic dwarf?

et al. 2006

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The proposed new hominid ''Homo floresiensis'' is based on specimens from cave deposits on the Indonesian island Flores. The primary evidence, dated at $ 18,000 y, is a skull and partial skeleton of a very small but dentally adult individual (LB1). Incomplete specimens are attributed to eight additional individuals. Stone tools at the site are also attributed to H. floresiensis. The discoverers interpreted H. floresiensis as an insular dwarf derived from Homo erectus, but others see LB1 as a small-bodied microcephalic Homo sapiens. Study of virtual endocasts, including LB1 and a European microcephalic, purportedly excluded microcephaly, but reconsideration reveals several problems. The cranial capacity of LB1 ($ 400 cc) is smaller than in any other known hominid < 3.5 Ma and is far too small to derive from Homo erectus by normal dwarfing. By contrast, some associated tools were generated with a prepared-core technique previously unknown for H. erectus, including bladelets otherwise associated exclusively with H. sapiens. The single European microcephalic skull used in comparing virtual endocasts was particularly unsuitable. The specimen was a cast, not the original skull (traced to Stuttgart), from a 10-year-old child with massive pathology. Moreover, the calotte does not fit well with the rest of the cast, probably being a later addition of unknown history. Consideration of various forms of human microcephaly and of two adult specimens indicates that LB1 could well be a microcephalic Homo sapiens. This is the most likely explanation for the incongruous association of a small-brained recent hominid with advanced stone tools.

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Section: Case For Microcephalymentioning

confidence: 99%

Flores hominid: New species or microcephalic dwarf?

et al. 2006

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“…Ear-patella-short stature syndrome (MGS) has become one of the increasingly recognized disorders and to date, at least cases of 35 patients have been published [Meier et al, 1959;Gorlin et al, 1975;Hurst et al, 1988;Cohen et al, 1991;Boles et al, 1994;Lacombe et al, 1994;Buebel et al, 1996;Teebi and Gorlin, 1997;Fryns, 1998;Loeys et al, 1999;Verhallen et al, 1999;Terhal et al, 2000;Bongers et al, 2001;Cohen et al, 2002;Feingold, 2002;Shalev and Hall, 2003;Dudkiewicz and Tanzer, 2004]. We observed a new patient with a previously unrecognized finding.…”

Section: To the Editormentioning

confidence: 70%

Meier‐Gorlin (ear‐patella‐short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

Faqeih

Sakati

Teebi

2005

American J of Med Genetics Pt A

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“…These comprise rare conditions such as microcephalic osteodysplastic primordial dwarfism and Seckel Syndrome (Type I, OMIM 210600; Type II, OMIM 606744; Type III, OMIM 608664). Dentinal features of these dwarfism‐associated conditions resemble DD‐I . Other rare syndromes with an abnormal dentin phenotype are listed in Table .…”

Section: Syndromes Involving Dentin Anomaliesmentioning

confidence: 99%

Dentin disorders: anomalies of dentin formation and structure

Coster¹

2009

Endodontic Topics

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Dentin defects represent a cluster of relatively rare heritable disorders affecting the formation and mineralization of dentin. Major clinical features include loss of enamel with extreme wear of exposed dentin, opalescent tooth discoloration, short roots with pulpal calcification and increased tooth mobility, and frequent periapical radiolucencies. Historically, these inherited conditions have been classified by Shields et al. (1) as either dentinogenesis imperfecta (DGI) types I, II and III, or dentin dysplasia (DD) types I and II. DGI type I is now universally designated as osteogenesis imperfecta with dentinogenesis imperfecta (OI/DGI) and is caused by type I collagen mutations. Among the genes expressing the non‐collagenous proteins in dentin, only the DSPP gene has been implicated in the etiology of DD type II and all DGI types, suggesting that heritable dentin defects can be viewed as a continuum rather than as distinct disease entities. Dental treatment strategies should aim to preserve the affected dentitions by protecting teeth from wear, restoring them to compliance with the specific structural characteristics of the defective dentin, and anticipating early tooth loss. Endodontic treatment of the affected teeth is very challenging because of the peculiar pulp morphology and most often has poor prognosis. If conventional therapy is not an option, periapical curettage and retrograde filling is a possible alternative, except in the case of teeth with short roots.

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A new Seckel‐like syndrome of primordial dwarfism

Cited by 8 publications

References 0 publications

Flores hominid: New species or microcephalic dwarf?

Flores hominid: New species or microcephalic dwarf?

Meier‐Gorlin (ear‐patella‐short stature) syndrome: Growth hormone deficiency and previously unrecognized findings

Dentin disorders: anomalies of dentin formation and structure

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