Familial Bird-headed Dwarfism (Seckel's Syndrome)

Sauk, John J.; Litt, Richard; Espiritu, C; Delaney, James R.

doi:10.1136/jmg.10.2.196

Cited by 26 publications

(12 citation statements)

References 6 publications

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“…A flat rather than sloping forehead has been documented in at least 3 other accepted cases of Seckel syndrome [Mann and Russell, 1959;Szalay, 1964;Thompson and Pembrey, 1985, case 71. The nasal bridge was not high in either of our patients, possibly due to their race as was observed in the case reported by Sauk et al [1973]. Similarly, the eyes in Seckel syndrome have been described as large and proptotic, with antimongoloid slant or small and widely placed with narrow palpebral fissures and globes disproportionately large for the shallow bony orbits.…”

Section: Discussionsupporting

confidence: 65%

“…Majewski and Goecke [19821 did not elaborate on the ear abnormalities, simply referring to them as dysplastic. For clarification, the most frequently reported abnormalities were apparently lowset (7/7) and lobeless ears (6/6) [Mann and Russell, 1959;Seckel, 1960, case 1;Szalay, 1964;Harper et al, 1967, cases 1-2;Sauk et al, 1973;Lambotte et al, 1976, case 21 as was seen in both of our patients. Microtia is also frequent.…”

Section: Discussionsupporting

confidence: 51%

“…However, delayed dental age is a variable finding in Seckel syndrome as normal and delayed patterns of dental eruption are observed with almost equal frequency [Chilvarquer et al, 19871. Seckel [19601 noted that his first patient had only 11 rib-bearing vertebrae and thus 6 "presacral non-ribbearing vertebrae," whereas kyphosis or scoliosis was present in at least 4 other accepted cases of the syndrome [Harper et al, 1967, case 2;Sauk et al, 1973;Cervenka et al, 1979, cases 1, 21. The characteristic stance reported by de la Cruz [19631 was seen in our patient 1 (Fig.…”

Section: Discussionmentioning

confidence: 99%

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A new Seckel-like syndrome of primordial dwarfism

et al. 1996

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Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well‐established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel‐like syndrome and suggests heterogeneity in this type of primordial dwarfism. © 1996 Wiley‐Liss, Inc.

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Section: Discussionsupporting

confidence: 65%

Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

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A new Seckel-like syndrome of primordial dwarfism

et al. 1996

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“…Seckel syndrome (SS) is a rare autosomal recessive disorder (OMIM 210600) with severe pre‐ and post‐natal growth retardation, short stature, mental retardation, severe microcephaly, and typical facial appearance with beak‐like protrusion [Seckel, 1960; Majewski and Goecke, 1982; Thompson and Pembrey, 1985]. Over 70 patients have been reported fulfilling the diagnostic criteria including associated hematological disorders, mainly pancytopenia, in about 20% of them [Upjohn, 1955; Seckel, 1960; Sauk et al, 1973; Majewski and Goecke, 1982; Lilleyman, 1984; Butler et al, 1987; Esperou‐Bordeau et al, 1993; Hayani et al, 1994; Syrrou et al, 1995; Woods et al, 1995]. Also, physical or chemical induced chromosome breakage (ICB) was reported in seven patients [Butler et al, 1987; Stoppoloni et al, 1992; Syrrou et al, 1995; Woods et al, 1995; Goodship et al, 2000], in four of which mitomycin C (MMC) was used, observing aberrations in all of them [Butler et al, 1987; Syrrou et al, 1995; Woods et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients

Bobabilla-Morales

Corona‐Rivera

et al. 2003

American J of Med Genetics Pt A

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Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation. A heterogeneous basis for SS was proposed since around 25% of SS patients have hematological anomalies, suggesting a subgroup of SS with chromosome instability and hematological disorders. Chromosome instability induced by mitomycin C (MMC) has been observed in previous reports. The purpose of this study is to report cytogenetic features in five patients with SS. The patients had low birth weight (mean 1,870 g), short stature (SD = 6.36), microcephaly (OFC, SD = 8.1), typical facial appearance, and multiple articular dislocations. None of them had anemia at the time of examination. In all cases their parents were healthy and non-consanguineous. Lymphocytes of SS patients and a control group (n = 9) matched by age and sex were cultured with and without MMC, and harvested at 72 and 96 hr. Chromosomal aberrations (chromatid and chromosomal gaps and breaks, deletions, fragments, and exchanges) were scored in 100 metaphases per culture. A statistical increase of chromosomal aberrations was observed in 96 hr MMC cultures in all patients (40.2% vs. 2.8%). Sister chromatid exchanges were also performed with no differences between groups. Clinical and cytogenetic findings support the idea that SS may correspond to a chromosome instability syndrome.

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“…Delayed maturation of bony development, as well as marked disharmonic retardation in ossification, has previously been reported [Majewski and Goecke, 1982;Poznanski et al, 19831. The presence of 11 pairs of ribs has been reported in at least three previous patients [Seckel, 1960;Sauk et al, 1973;Tsuchya et al, 19811. The hand findings in the Seckel "syndrome" were summarized recently [Poznanski et al, 19831.…”

Section: Discussionmentioning

confidence: 85%

Osteodysplastic variant of primordial dwarfism

et al. 1991

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A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.

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Familial Bird-headed Dwarfism (Seckel's Syndrome)

Cited by 26 publications

References 6 publications

A new Seckel-like syndrome of primordial dwarfism

A new Seckel-like syndrome of primordial dwarfism

Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients

Osteodysplastic variant of primordial dwarfism

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