Syndromal foramina parietalia permagna: ?new? or FG syndrome? Comments on the paper by Chrzanowska et al. [1998]

Rauch, Anita; Opitz, John M.; Walker, D.T.

doi:10.1002/(sici)1096-8628(19980806)78:5<406::aid-ajmg2>3.0.co;2-j

Cited by 3 publications

(2 citation statements)

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“…The condition is etiologically heterogeneous. Parietal foramina may occur alone or with various other anomalies and syndromes [Little et al, 1990; Bartsch et al, 1996; Chrzanowska et al, 1998; Rauch et al, 1998].…”

Section: Msx1 and Msx2: Biology Mutations And Associated Disordersmentioning

confidence: 99%

The new bone biology: Pathologic, molecular, and clinical correlates

Cohen

2006

American J of Med Genetics Pt A

287

197

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Bone and cartilage and their disorders are addressed under the following headings: functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; epithelial-mesenchymal interaction, condensation and differentiation; osteoblasts, markers of bone formation, osteoclasts, components of bone, and pathology of bone; chondroblasts, markers of cartilage formation, secondary cartilage, components of cartilage, and pathology of cartilage; intramembranous and endochondral bone formation; RUNX genes and cleidocranial dysplasia (CCD); osterix; histone deacetylase 4 and Runx2; Ligand to receptor activator of NFkappaB (RANKL), RANK, osteoprotegerin, and osteoimmunology; WNT signaling, LRP5 mutations, and beta-catenin; the role of leptin in bone remodeling; collagens, collagenopathies, and osteogenesis imperfecta; FGFs/FGFRs, FGFR3 skeletal dysplasias, craniosynostosis, and other disorders; short limb chondrodysplasias; molecular control of the growth plate in endochondral bone formation and genetic disorders of IHH and PTHR1; ANKH, craniometaphyseal dysplasia, and chondrocalcinosis; transforming growth factor beta, Camurati-Engelmann disease (CED), and Marfan syndrome, types I and II; an ACVR1 mutation and fibrodysplasia ossificans progressiva; MSX1 and MSX2: biology, mutations, and associated disorders; G protein, activation of adenylyl cyclase, GNAS1 mutations, McCune-Albright syndrome, fibrous dysplasia, and Albright hereditary osteodystrophy; FLNA and associated disorders; and morphological development of teeth and their genetic mutations.

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Section: Msx1 and Msx2: Biology Mutations And Associated Disordersmentioning

confidence: 99%

The new bone biology: Pathologic, molecular, and clinical correlates

Cohen

2006

American J of Med Genetics Pt A

287

197

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“…Cranium bifidum can be associated with other malformations or seen as an isolated, dominantly transmitted trait [Terrafranca and Zellis, 1953; Sedano et al, 1970; Little et al, 1990; Saavedra et al, 1996]. Foramina parietalia permagna, or enlarged parietal foramina not associated with bifid cranium, has been reported as an isolated autosomal dominant trait [Rasore‐Quartino et al, 1985; Zabek, 1987, Kutilek et al, 1997], associated with Saethre‐Chotzen syndrome [Freidman et al, 1977; Thompson et al, 1984; Young and Swift, 1985], FG syndrome [Rauch et al, 1998], and observed as part of a contiguous gene syndrome due to deletions in the proximal short arm of chromosome 11 [Shaffer et al, 1993, Bartsch et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

et al. 2000

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The relationship of delayed membranous cranial ossification to cranium bifidum and parietal foramina syndromes is unclear. We report on a family with delayed cranial membranous ossification (OMIM 155980) that segregates with an apparently balanced reciprocal translocation between chromosomes 2 and 3. The propositus had apparently low-set ears, proptosis, and a soft skull at birth. A radiographic survey of the skeleton showed markedly decreased ossification of the cranial bones and no other skeletal abnormalities. The mother and maternal grandmother of the propositus have brachycephaly, hypertelorism, and a history of a soft skull at birth. Chromosome analysis of peripheral blood from the propositus showed 46,XY,t(2;3)(p15;q12). The propositus, mother, and grandmother carry the same reciprocal translocation, whereas the mother's two phenotypically normal sibs have a normal karyotype. We used an STS-linked BAC resource to define the translocation breakpoint by identifying flanking BAC clones from both chromosomes 2, 1006D24 (D2S2279) and 1060A5 (D2S2231), and chromosome 3, 3D17 (WI8558) and 3D18 [CITB Human BAC Library, J.R.K.]. This represents the second report of a family with delayed membranous ossification of the cranium and the first report of the phenotype segregating with a chromosome rearrangement.

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Reluctance to accept FG syndrome diagnosis

Chrzanowska

Kozłowski

1999

Am. J. Med. Genet.

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Syndromal foramina parietalia permagna: ?new? or FG syndrome? Comments on the paper by Chrzanowska et al. [1998]

Cited by 3 publications

References 6 publications

The new bone biology: Pathologic, molecular, and clinical correlates

The new bone biology: Pathologic, molecular, and clinical correlates

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)

Reluctance to accept FG syndrome diagnosis

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