Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases

Doray, Bérénice; Favre, R.; Viville, B.; Langer, B.; Dreyfus, Michel; Stoll, Claude

doi:10.1016/s0003-3995(00)01026-1

Cited by 109 publications

(93 citation statements)

References 12 publications

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“…Another example is the Saethre-Chotzen syndrome, which is characterized by craniosynostosis and limb abnormalities and is associated with mutations in TWIST (42). Additional haploinsufficiency conditions associated with transcription factors are Greig cephalopolysyndactyly, Pallister-Hall, Waardenburg syndrome type 2, Boston-type craniosynostosis, and Townes-Brocks syndrome (43)(44)(45)(46).…”

Section: Discussionmentioning

confidence: 99%

Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix–loop–helix domains

Bayarsaihan

Ruddle

2000

Proc. Natl. Acad. Sci. U.S.A.

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The transcriptional regulation of the Hoxc8 gene is controlled during early mouse embryogenesis by an enhanceosome-like control region, termed the early enhancer (EE), located 3 kb upstream from the Hoxc8 translation start site. The EE is involved in establishing the posterior expression pattern of Hoxc8 at embryonic day (E) 8.5-9.0. Genetic and biochemical data have shown that nuclear factors interact with this region in a sequence-specific manner. We have used a yeast onehybrid screen in a search for transcription factors that bind to EE motifs and have isolated a novel murine DNA-binding protein, termed BEN (binding factor for early enhancer). The ORF of BEN encodes a protein of 1072 amino acids and contains six helix-loop-helix domains, a hydrophobic leucine zipper-like motif, and a serine-rich repeat. The murine BEN gene is structurally similar to the human gene TFII-I in that both genes encode unique 95-amino acid long helixloop͞span-helix domains. The BEN gene produces several major transcripts (3.6, 4.4, and 5.9 kb) present in most adult tissues and shows discrete spatial and temporal domains of expression in areas of epithelial-mesenchymal interaction during mouse embryogenesis from E9.5 to E12.5. Several BEN-encoded polypeptides of different sizes ranging from 165 to 40 kDa were identified by Western blot analysis using BEN-specific polyclonal Abs. We propose, on the bases of sequence homology, that BEN is the mouse ortholog of the recently described human gene, WBSCR11, known also as GTF2IRD1, GTF3, Cream1, and MusTRD1. This gene is deleted hemizygously in individuals with Williams Syndrome, an autosomal dominant genetic condition characterized by complex physical, cognitive, and behavioral traits resulting from a perturbed developmental process.Williams Syndrome ͉ Hoxc8

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Section: Discussionmentioning

confidence: 99%

Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix–loop–helix domains

Bayarsaihan

Ruddle

2000

Proc. Natl. Acad. Sci. U.S.A.

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“…The sometimes extremely different phenotypical expression for a certain abnormality suspected or diagnosed, the atypical evolution or events during the pregnancy or in the postnatal period, the lack of specific or targeted genetic tests for certain entities, as well as the multiple features and elements overlapping a certain group of diseases, make this exceptionally vast category a pathological complex extremely difficult to diagnose prenatally with precision [20][21][22][23][24][25].…”

Section: (27)mentioning

confidence: 99%

Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

et al. 2017

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Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology.

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“…The fetal skeleton is easily visualized by ultrasound, however most series note a diagnostic accuracy for the skeletal dysplasias at less than 50%. (Doray et al, 2000;Parilla et al, 2003;Krakow et al, 2008) Shortening of the FL is referred to as rhizomelia. When a short FL is identified before 24 weeks gestation, skeletal dysplasias must be considered and all long bones (each femur, humerus, radius, ulna, tibia, and fibula) must be measured to determine the relative length against normal values.…”

Section: Femur Length Skeletal Dysplasias and Other Malformationsmentioning

confidence: 99%