Predictive value of minor anomalies. I. Association with major malformations

Leppig, Kathleen A.; Werler, Martha M.; Cann, Cristina I.; Cook, Catherine; Holmes, Lewis B.

doi:10.1016/s0022-3476(87)80543-7

Cited by 199 publications

(125 citation statements)

References 6 publications

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“…The presence of three or more minor anomalies has been considered significant because of the increased risk of major malformations, and this was used to classify patients as dysmorphic. 40 This study found a significant likelihood of detecting a diagnostic abnormality in an adult patient when a potential syndrome was raised by a clinical geneticist, because fragile X syndrome, Smith-Magenis syndrome, and Velo-cardio-facial syndrome were all recognized clinically prior to genetic test results.…”

Section: Discussionmentioning

confidence: 85%

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Stobbe

Liu²,

Wu³

et al. 2014

Genetics in Medicine

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Section: Discussionmentioning

confidence: 85%

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Stobbe

Liu²,

Wu³

et al. 2014

Genetics in Medicine

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“…Premature infants (< 34 weeks); infants with a major medical or neurological condition (e.g., cardiac defects, cerebral palsy, etc. ); and infants with more than 3 extracranial minor malformations 30 or any other major malformation were excluded. For patients for whom parents gave consent, we collected biospecimens and analyzed genetic data by array comparative genomic hybridization (CGH) and candidate and gene resequencing (for details see Cunningham et al 14 ).…”

Section: Casesmentioning

confidence: 99%

Language, learning, and memory in children with and without single-suture craniosynostosis

Kapp-Simon

Wallace²,

Collett

et al. 2016

PED

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OBJECTIVE The language and memory functions of children with and without single-suture craniosynostosis (SSC) were compared at school age (mean 7.45 years, standard deviation [SD] 0.54 years). The children in this cohort were originally recruited in infancy and prior to cranial surgery for those with SSC. METHODS Individual evaluations of 179 school-aged children with SSC and 183 controls were conducted (70% of the original cohort) using standardized measures of language, learning, and memory. Parents participated in an interview about specialized education interventions and school progress. Parents and teachers completed questionnaires about language development. RESULTS Children with SSC (cases) obtained lower scores than controls on all measures. The adjusted differences in language, learning, and memory scores were modest, with SD ranging from 0.0 to −0.4 (p values ranged from 0.001 to 0.99). Censored normal regression was used to account for intervention services received prior to the school-age evaluation; this increased case-control differences (SD range 0.1 to −0.5, p value range 0.001 to 0.50). Mean scores for cases in each SSC diagnostic group were lower than those for controls, with the greatest differences observed among children with unilateral coronal craniosynostosis. CONCLUSIONS Children with SSC continue to show poorer performance than controls on language, learning, and memory tasks at early elementary school age, even when controlling for known confounders, although mean differences are small. Multidisciplinary care, including direct psychological assessment, for children with SSC should extend through school age with a specific focus on language and conceptual learning, as these are areas of potential risk. Future research is needed to investigate language, memory, and learning for this population during the middle to high school years.

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“…Exclusion criteria for cases included (1) premature birth (before 34 weeks' gestation); (2) presence of major medical or neurologic conditions (e.g., cardiac defects, seizure disorders, cerebral palsy, significant health conditions requiring surgical correction); (3) presence of three or more extracranial minor malformations as defined by Leppig et al 19 ; or (4) presence of major malformations. Twins were eligible to participate in the study when either one had single-suture craniosynostosis.…”

Section: Participantsmentioning

confidence: 99%

Neurodevelopment of Infants with Single-Suture Craniosynostosis: Presurgery Comparisons with Case-Matched Controls

Speltz

Kapp-Simon

Collett

et al. 2007

Plastic and Reconstructive Surgery

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100

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Predictive value of minor anomalies. I. Association with major malformations

Cited by 199 publications

References 6 publications

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Language, learning, and memory in children with and without single-suture craniosynostosis

Neurodevelopment of Infants with Single-Suture Craniosynostosis: Presurgery Comparisons with Case-Matched Controls

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