Two Cases of De Lange's Syndrome (Typus Degenerativus Amstelodamensis)

Beer, Sandra Maria Canelas; Wallis, K.; Czerniak, P

doi:10.1111/j.1365-2788.1968.tb00252.x

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…In these cases a mildly affected parent had one or more clearly affected children with BDLS. Several other authors (Borghi et al 1954, Beer et al 1968, Beck 1974 reported families in which one parent of an affected child was said to have mild manifestations of the syndrome in retrospect. The fact that most severe cases of BDLS occur sporadically suggests that they are due to fresh mutations of an auto-soma1 dominant gene.…”

Section: Discussionmentioning

confidence: 99%

On the variable expression of the Brachmann‐de Lange syndrome

Die‐Smulders¹,

Theunissen²,

Schrander-Stumpel³

et al. 1992

Clinical Genetics

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de Die‐Smulders C, Theunissen P, Schrander‐Stumpel C. On the variable expression of the Brachmann‐de Lange syndrome. Clin Genet 1992:41:42–45. A mother of normal intelligence and her moderately mentally retarded son, both with the typical facia! features of the Brachmann‐de Lange syndrome, are reported. We discuss the variable expression of the Brachmann‐de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal dominant cases show milder symptoms in general. In our opinion, a de novo autosomal dominant mutation causes the severe form of the syndrome, recurrence within sibships being explained by germline mosaicism. In all convincingly autosomal dominant cases we found that the mother is the transmitting parent, suggesting genomic imprinting.

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Section: Discussionmentioning

confidence: 99%

On the variable expression of the Brachmann‐de Lange syndrome

Die‐Smulders¹,

Theunissen²,

Schrander-Stumpel³

et al. 1992

Clinical Genetics

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Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

Russell

Ming

Patel³

et al. 2001

Am. J. Med. Genet.

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The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized.

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