Variability of the Brachmann‐de Lange Syndrome

Selicorni, Angelo; Lalatta, Faustina; Livini, E.; Briscioli, Vincenza; Piguzzi, T.; Bagozzi, D. Clerici; Mastroiacovo, P; Zampino, Giuseppe; Gaeta, Giovanni Battista; Pugliese, Aniello; Cerutti‐Mainaroli, P.; Guala, Andrea; Zelante, Leopoldo; Stabile, M; Belli, Serena; Franceschini, P; Gianotti, Ambra; Scarano, Giovanni

doi:10.1002/ajmg.1320470708

Cited by 20 publications

(11 citation statements)

References 35 publications

(15 reference statements)

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“…One patient was missing the 2nd right toe. In previous surveys, major anomalies of lower limbs were represented in similar proportions and included mainly shortenings [Payne and Maeda, 1965; Ireland et al, 1993; Selicorni et al, 1993; Martinez‐Frias et al, 1998], while absence of a part of a lower limb was reported only occasionally (the absence of both tibiae, the right distal femur being bifurcated) [Pfeiffer and Correll, 1993].…”

Section: Discussionmentioning

confidence: 92%

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Barišić

Tokić

Loane

et al. 2007

American J of Med Genetics Pt A

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Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed

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Section: Discussionmentioning

confidence: 92%

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Barišić

Tokić

Loane

et al. 2007

American J of Med Genetics Pt A

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“…Since the identification of the genetic etiology of CdLS, it has been appreciated that there is a wide range of severity in phenotypic features. The milder phenotype is characterized by a lower prevalence of major malformations, less distinctive facial features, and less significant psychomotor and growth delays [Ireland et al, 1993; Kline et al, 1993; Moeschler and Graham, 1993; Saul et al, 1993; Allanson et al, 1997; Selicorni et al, 2005]. …”

Section: Introductionmentioning

confidence: 99%

Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

Nakanishi

Deardorff

Clark

et al. 2012

American J of Med Genetics Pt A

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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children’s Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview-Revised (ADI-R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI-R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention.

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“…[2][3][4][5][6][7] In an extensive review of 310 cases, Jackson et al 8 reported mildly affected cases to be more common than anticipated. Various behavioural phenotypes have been associated with CdLS, especially involving self injurious, 9 aggressive, and self restraining behaviour, and autism (-like) features.…”

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confidence: 97%