Prenatal ultrasonographic appearance of “Cornelia de Lange” syndrome

Drolshagen, L F; Durmon, Gudron; Berumen, Mike; Burks, Deland D.

doi:10.1002/jcu.1870200710

Cited by 25 publications

(15 citation statements)

References 5 publications

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Section: Discussionmentioning

confidence: 98%

“…The most common ultrasound abnormality associated with the syndrome is IUGR (Bruner and Hsia, 1990;Drolshagen et al, 1992) but this is usually not identifiable until the third trimester. Abnormalities which may be detected at the 18-20 week scan include severe LRDs, such as missing digits or forearms (in 14 per cent), diaphragmatic hernias, structural heart abnormalities (18 per cent), fixed flexion deformities of the elbows (84 per cent) and the characteristic facial profile (Bruner and Hsia, 1990;Drolshagen et al, 1992). The latter comprises a very small mandible with prominent philtrum, depressed nasal bridge with anteverted nostrils and has recently been highlighted by Manouvrier et al (1996) who reported prenatal diagnosis of CdLS in one pregnancy based on ultrasound findings alone.…”

Section: Discussionmentioning

confidence: 98%

“…Despite this low recurrence risk parental anxiety in subsequent pregnancies is usually high. Prenatal diagnosis, based on recognition of manifestations of the syndrome by ultrasonography, is rarely achieved (Bruner and Hsia, 1990;Drolshagen et al, 1992;Manouvrier et al, 1996).…”

Section: Introductionmentioning

confidence: 99%

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Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

et al. 1999

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Maternal serum samples were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype ascertained by careful clinical review. Using specific immunoassays, the serum levels of pregnancy associated plasma protein‐A, free‐beta human chorionic gonadotrophin and inhibin A were investigated. Pregnancy associated plasma protein‐A was detectable in all cases but the levels were significantly reduced in second‐trimester maternal serum from 18 affected pregnancies. Expressed as multiples of the median (MOM), the results ranged from 0.03 MOM to 0.71 MOM with an overall median value of 0.21 MOM (Mann–Whitney p<0.001). From these data it is possible to estimate a probability that any given level of this serum marker is associated with an affected pregnancy. One further sample taken in the first trimester from an affected pregnancy at 11 weeks' gestation had a normal pregnancy associated plasma protein‐A level (1.22 MOM). Less markedly reduced levels were found for free beta human chorionic gonadotrophin and inhibin A. We conclude that second‐trimester maternal serum pregnancy associated plasma protein‐A measurements may be of value as an adjunct to ultrasonography in the prenatal diagnosis of Cornelia de Lange syndrome. A table of likelihood ratios is presented. Copyright © 1999 John Wiley & Sons, Ltd.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 98%

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Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

et al. 1999

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“…Congenital cardiac abnormalities, although classical in this syndrome, are rarely stated during the prenatal period [9,11,15]: ventricular or atrial septal defects, aortic or pulmonary stenoses, tetralogy of Fallot, atrioventricular canal, single ventricle, and aortopulmonary window. Table 1.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of a ‘Minor’ Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography

Vaillant¹,

Quere²,

David

et al. 2004

Fetal Diagn Ther

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Brachmann-de Lange syndrome is a congenital disease characterized by severe mental retardation, pre- and postnatal symmetric growth delay, limb defects, visceral anomalies, hirsutism, and a typical face. The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intrauterine growth retardation, facial dysmorphism, cardiac abnormality, and micromelia without the typical defects of the upper limbs. Fetal karyotyping was normal. The diagnosis of a ‘minor’ form of Brachmann-de Lange syndrome was confirmed at 28 weeks of gestation by using three-dimensional sonography in order to assess precisely the facial dysmorphism and by performing a three-dimensional computed tomography of the upper limbs in order to identify the subtle abnormalities of the radial head and of the first metacarpal bone.

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“…The Pallister-Killian syndrome [16] demonstrates a phenotype very similar to Fryns syndrome, but the diagnosis is based on the search for tetrasomy 12p on cultured fibroblasts of the amniotic fluid. Cornelia de Lange syndrome [17] is characterised by se vere intrauterine growth retardation, micro cephaly, facial dysmorphology, typical hirsu tism and low hair line. Limb anomalies in clude ulnar dysplasia and micromelia, espe cially of the humerus.…”

Section: Discussionmentioning

confidence: 99%

Use of Three-Dimensional Ultrasound to Establish the Prenatal Diagnosis of Fryns Syndrome

D¹,

Favre²,

Gasser

1996

Fetal Diagn Ther

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Three-dimensional (3D) imaging permits surface reconstructions that allow a better view of the appearance of organs. We report a case of a fetus with cystic hygroma diagnosed at 11 weeks of gestation, associated with a diaphragmatic hernia. With the 3D reconstruction, we examined the fetal face much more easily, which presented facial dysmorphology, retrognathia, macrostomia and a broad nasal bridge. The conjunctions of these pathological features and a normal karyotype allowed to establish a prenatal diagnosis of Fryns syndrome, confirmed by autopsy.

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Prenatal ultrasonographic appearance of “Cornelia de Lange” syndrome

Cited by 25 publications

References 5 publications

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

Prenatal Diagnosis of a ‘Minor’ Form of Brachmann-de Lange Syndrome by Three-Dimensional Sonography and Three-Dimensional Computed Tomography

Use of Three-Dimensional Ultrasound to Establish the Prenatal Diagnosis of Fryns Syndrome

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