The Cornelia de Lange syndrome

Ptáček, Louis J.; Opitz, John M.; Smith, David W.; Gerritsen, Theo; Waisman, Harry A.

doi:10.1016/s0022-3476(63)80234-6

Cited by 153 publications

(74 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Em muitos casos foi assinalada cicatriz umbelical pequena, associada ou não a hérnia inguinal 8 . 12 . O nosso primeiro caso tem hérnia inguinoescrotal direita.…”

Section: Os Casos De Sbl São Característicosunclassified

Síndrome Brachmann-de Lange: a propósito de três casos

Sztajnberg¹,

Pompeu²,

Teixeira³

et al. 1973

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

A síndrome em tela caracteriza-se principalmente pelos seguintes sinais e sintomas: retardamento mental e somático, facie típica e anomalias esqueléticas. Muitas vezes é possível identificar esses casos pelo choro. A etiología é desconhecida. Alguns autores, como Opitz e Smith 11 , querem dar-lhe cará-ter genético, transmitida sob forma autosômica recessiva, o que é questionável.Trabalho apresentado ao V

show abstract

“…Em muitos casos foi assinalada cicatriz umbelical pequena, associada ou não a hérnia inguinal 8 . 12 . O nosso primeiro caso tem hérnia inguinoescrotal direita.…”

Section: Os Casos De Sbl São Característicosunclassified

Síndrome Brachmann-de Lange: a propósito de três casos

Sztajnberg¹,

Pompeu²,

Teixeira³

et al. 1973

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Clearly the total number of significant tests (II) observed is very close to the number expected by chance alone (12.5). But the number of highly significant tests Ptacek et al [1963]; four of them (T.G., A.K., D.K., and B.R.) were mentioned in the discussion by O p it z et al [1965], Two families included in the chart have more than one affected member: A.K.…”

Section: Statistical Analysis O F Correlated Occurrence O F Anomaliesmentioning

confidence: 99%

“…4, O pitz et al [1965], personally exam ined) and 3 affected brothers who were either stillborn or who died neonatally; (2) W.M., sibship 16, figure 1, in Opitz et al [1965] -studied by Summitt [personal communication]; the patient's older sibling was stillborn at 32 weeks gestation with absence of right hand, oligodactyly of left hand and the typical facial features of the BDLS; (3) O.H., sibship 18, figure 1, in Opitz et al [1965], also mentioned in the appendix of the paper by Ptacek et al [1963], The patient's oldest sibling was a severely affected girl who died at 4 months of age in an institution for the mentally retarded; the diagnosis was made by us from unequivocally diagnostic photos and the clinical description; (4) Dr. Bente Beck [personal communication, 1970] in her survey of all BDL cases of Denmark found 'one sibship with a(n) affected brother and (an affected) sister'.…”

Section: Phenotypic Considerationsmentioning

confidence: 99%

Studies of Malformation Syndromes XXVA

Motl¹,

Opitz²

1971

Hum Hered

View full text Add to dashboard Cite

The statistical analysis of phenotypic data available on 180 cases of the Brachmann-de Lange syndrome (BDLS), (161 previously published, 19 personally studied) documented the incomplete nature of most case reports, and the fact that investigators are more likely to mention abnormal traits than normal traits in their reports; it did not uncover evidence of (etiologically pertinent) heterogeneity of the BDL phenotype. The finding of a C-autosomal ring in one of our patients and the available genetic and cytogenetic data are discussed in the context of the hypothesis that the BDLS is recessively inherited and that the homozygous state of this incompletely recessive gene predisposes to early zygotic chromosome breakage and/or chromosome loss which is lethal in most cases. The hypothesis of autosomal recessive inheritance is further strengthened by the discovery of a new BDL case (PM) at Central Wisconsin Colony in Madison (courtesy Dr. E. G. Kaveggia); this 35-year-old woman was the product of an uncle/niece marriage.

show abstract

“…[1][2][3] The characteristic craniofacial features of the highest diagnostic value include a low-set hairline in the front and back, long eyelashes, bushy eyebrows, upturned nose with anteverted nostrils, thin lips with a long philtrum, and microbrachycephaly. In addition, a variable degree of hearing impairment has been reported in Ͼ80% of patients with Cornelia de Lange syndrome.…”

mentioning

confidence: 99%

“…In addition, a variable degree of hearing impairment has been reported in Ͼ80% of patients with Cornelia de Lange syndrome. 1,2,[4][5][6][7][8][9] The syndrome occurs in approximately 0.5-1 of every 10,000 live births without any known predilection for race or sex. 10,11 Most cases are usually sporadic and are thought to result from a new autosomal dominant mutation.…”

mentioning

confidence: 99%