1993
DOI: 10.1002/ajmg.1320470712
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Brachmann‐de Lange syndrome: Diagnostic difficulties posed by the mild phenotype

Abstract: We describe 4 patients with facial changes of Brachmann-de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Branchmann-de Lange phenotype. The relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated.

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Cited by 17 publications
(11 citation statements)
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“…Interestingly, however, and unlike most affected persons with NIPBL coding mutations, Patient 1 had no intrauterine growth retardation, an almost constant finding in CdLS, and her postnatal height, weight, and OFC were above the 50th centile as compared to age-and sex-matched individuals with CdLS . Both father and daughter fulfil proposed diagnostic criteria for mild CdLS since they had birth weights 42,500 g, mild-to-moderate mental retardation, and no major upper limb malformations [Saul et al, 1993;Allanson et al, 1997]. Future studies will show if mutations in the NIPBL 5 0 UTR lead to a milder phenotype, especially with respect to growth and cognition.…”
Section: Discussionmentioning
confidence: 96%
“…Interestingly, however, and unlike most affected persons with NIPBL coding mutations, Patient 1 had no intrauterine growth retardation, an almost constant finding in CdLS, and her postnatal height, weight, and OFC were above the 50th centile as compared to age-and sex-matched individuals with CdLS . Both father and daughter fulfil proposed diagnostic criteria for mild CdLS since they had birth weights 42,500 g, mild-to-moderate mental retardation, and no major upper limb malformations [Saul et al, 1993;Allanson et al, 1997]. Future studies will show if mutations in the NIPBL 5 0 UTR lead to a milder phenotype, especially with respect to growth and cognition.…”
Section: Discussionmentioning
confidence: 96%
“…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%
“…These clinical facial features are quite striking and easily recognizable, which makes the classical phenotype well delineated [Preus and Rex, 1983; Ireland et al, 1993; Van Allen et al, 1993]. Before the introduction of molecular tests, the diagnosis was often problematic in mildly affected patients as there was no consensus about the minimal diagnostic criteria for this subgroup of patients [Baraitser and Papavasiliou, 1993; Saul et al, 1993; Van Allen et al, 1993].…”
Section: Introductionmentioning
confidence: 99%