Craniofacial variability index <i>in utero</i>: a three‐dimensional ultrasound study

Roelfsema, N. M.; Hop, Wim C. J.; Adrichem, L.N.A. van; Wladimiroff, J. W.

doi:10.1002/uog.3904

Cited by 24 publications

(30 citation statements)

References 12 publications

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“…1,2,22 In fetuses with DS, increased skeletal orbital height (in accord with the current result in Italian subjects but in contrast with that in North Sudanese ones) and interocular distance (in good accord with the current findings, especially in North Sudanese subjects) were found. 16 In contrast, in a three-dimensional ultrasonographic study, Roelfsema et al 17 found that a 29-week-old fetus with DS had significantly (92 SDs) reduced bony orbital dimensions (interocular and outer ocular distances) when compared with normal fetuses of the same gestational age. For both studies, no information about the ethnicity of their fetuses was reported, and only further investigations may help in better understanding of these contrasting data.…”

Section: 4y7mentioning

confidence: 92%

“…Scanty data were provided by Farkas et al 10Y13 and Bagic and Verzak 9 whereas recent investigations analyzed orbital skeletal measurements in normal and DS fetuses. 16,17 Development of the structures of the upper facial third is strictly related to forebrain development, and alterations in orbital characteristics may derive from cerebral malformations in the embryonic and fetal period. 1,22 In the current study, the faces of 2 groups of subjects with DS (Italian white and North Sudanese) were imaged in 3 dimensions using computerized instruments, and the morphologic features of their orbital soft tissues were quantitatively analyzed using indirect, computerized anthropometry.…”

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confidence: 99%

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Morphometry of the Orbital Region Soft Tissues in Down Syndrome

Sforza

Elamin

Dellavia

et al. 2012

Journal of Craniofacial Surgery

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The orbital region of subjects with Down syndrome (DS) has been scanty described so far. We wanted to detail the morphologic characteristics of the soft tissue orbital region in Italian and North Sudanese subjects with DS.The three-dimensional coordinates of 10 landmarks on the orbital soft tissues were obtained using computerized anthropometry in 53 Italian and 64 North Sudanese subjects with DS aged 4 to 52 years, and in 461 (Italian) and 682 (North Sudanese) sex-and age-matched controls. From the landmarks, linear distances, ratios, areas, and angles were calculated, z scores computed, and compared by t-tests and analyses of covariance.In North Sudanese DS subjects, intercanthal width and height-tolength ratio were increased; biorbital width, eye height, length, and area were reduced. Eye fissure and orbital inclinations relative to Frankfort plane were reduced, whereas orbital inclinations versus the true horizontal were increased. In Italian DS men, orbital height and height-to-length ratio were increased, eye length was decreased; orbital inclination versus the true horizontal was increased. For almost all measurements, a significant effect of age was found. No effects of sex were found. Ethnic group influenced orbital height, area, and orbital inclination versus Frankfort plane. All paired measurements had similar discrepancies on both sides.The orbital soft tissues of North Sudanese DS subjects differed from those of their reference subjects, but this was only partially true for Italian subjects. The 2 ethnic groups had different alterations in their soft tissue orbital regions that were influenced by age, but not by sex.Key Words: Face, three-dimensional, soft tissues, anthropometry, Down syndrome (J Craniofac Surg 2012;23: 198Y202) T he soft tissues of the orbital region play a major role in the evaluation and recognition of the craniofacial complex, and relevant anthropometric data are often used for multiple diagnostic and forensic procedures. Among others, there are evaluations of traumas, chromosomal and single gene alterations, teratogenic-induced conditions such as the fetal alcohol syndrome, and facial reconstruction.1Y3 Sex, age, and ethnicity are factors that influence the soft tissue characteristics of the orbital region significantly, both in healthy subjects and in patients. 2Y7Down syndrome (DS) (Mendelian Inheritance in Man no. 1906858) is the most frequent autosomal aneuploidy in live-born humans. Down syndrome is produced by the complete or partial trisomy of chromosome 21, and it is characterized by several morphologic and functional alterations of body structures, from cellular organelles to multiorgan systems, which are present in varying degrees in the affected individuals.8 A distinctive craniofacial appearance is present in almost all persons with DS. 8 Subjects with DS have a reduced head size with a modified head shape; a decrease in the interorbital distance, a small palpebral fissure, and a prominent forehead; a hypoplastic facial middle third (maxilla) with a les...

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Section: 4y7mentioning

confidence: 92%

mentioning

confidence: 99%

Morphometry of the Orbital Region Soft Tissues in Down Syndrome

Sforza

Elamin

Dellavia

et al. 2012

Journal of Craniofacial Surgery

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“…Certains auteurs ont proposé d'établir un index de variabilité craniofaciale qui pourrait aider à l'évaluation de la face foetale [6]. Une étude critique de cet article montre que les index les plus élevés correspondent à des malformations sévères aisément identifiables en échographie 2D, alors que les dysmorphies plus subtiles (trisomie 21, syndrome d'Allagille) échappent au diagnostic.…”

Section: La Faceunclassified

Approche de la dysmorphologie fœtale in utero

Philip

Quarello

Gorincour

et al. 2010

Gynécologie Obstétrique & Fertilité

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“…Its modifications have been correlated with syndromic features, especially in fetuses with cleft lip/palate. 8,9 The role of 3D ultrasound is also unique in achieving a subjective evaluation of the fetal face:…”

Section: Three-dimensional Ultrasound: Technical Aspects and Clinicalmentioning

confidence: 99%