Six Cases of De Lange's Syndrome; Parental Consanguinity in Two

Pearce, P. M.; Pitt, David; Roboz, Paul

doi:10.5694/j.1326-5377.1967.tb21413.x

Cited by 28 publications

(10 citation statements)

References 6 publications

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“…(1969Pashayan et ai. ( , 1970, Passarge et al (1971), Payne and Maeda (1965), Pearce et al (1967), Podhradska et al (1968), Ptacek et al (1963), Richter (1961), Salazar (1966), Schlesinger et al (1963), Schuster and Johnson (1966), Silver (1964, Smithells (1965), Verma (1970), Vischer (1965), WaIbaum et al (1969), and our own unpublished data.…”

Section: Single-gene Disorders and Disorders With Uncertain Genetic Tmentioning

confidence: 66%

Medical Disorders with Associated Dermatoglyphic Abnormalities

Schaumann

Alter

1976

Dermatoglyphics in Medical Disorders

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Section: Single-gene Disorders and Disorders With Uncertain Genetic Tmentioning

confidence: 66%

Medical Disorders with Associated Dermatoglyphic Abnormalities

Schaumann

Alter

1976

Dermatoglyphics in Medical Disorders

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“…Cases of discordance between dizygotic and monozygotic twins have been reported too [Stevenson and Scott, 1976;Carakushansky and Berthier, 19761. In spite of the sporadic occurrence in most cases, several reports of affected sibs have been published, consistent with both autosomal dominant [Barr et al, 1971;Beck, 1974;Bankier et al, 1985;Leavitt et al, 1985;Kumar et al, 1985;Robinson et al, 19851 and autosomal recessive transmission [Corda, 1966;Pearce et al, 1967;Mot1 and Opitz, 1971;Beratis et al, 1971;Lieber et al, 1973;Parisi et al, 1975;Beck and Mikkelsen, 19811. Many causal hypotheses have been discussed. Ptacek et al [19631 were the first to suggest that BDLS could be due to a n autosomal dominant mutation.…”

Section: Discussionmentioning

confidence: 95%

Variability of the Brachmann‐de Lange Syndrome

Selicorni¹,

Lalatta²,

Livini³

et al. 1993

Am. J. Med. Genet.

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Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups.

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“…Only very few systematic investigations of the frequency with which this syndrome occurs have been carried out. In 1967, Pearce et al (14) estimated the prevalence to be 1/100000 in the Australian population after a survey of 1000 institutionalized mentally retarded children with IQs of less than 50.…”

mentioning

confidence: 99%

Epidemiology of Cornelia De Lange's Syndrome

Beck¹

1976

Acta Paediatrica

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A prevalence investigation of Cornelia de Lange's syndrome in Denmark is presented. The patients were traced by screening all institutional mentally retarded patients, patients in schools and kindergartens for imbecile patients and finally by getting information on Cornelia de Lange patients known to pediatric departments. In this way 24 patients, 10 men and 14 women, were found. This amounts to a population prevalence of 0.5/100 000. Clinical data, histories of the patients and genealogical data are presented by means of tables. The eldest patient was 49 years old, but 75% of the patients were younger than 20 years. Two of the probands were sibs. Another 2 sibs were registered as mentally retarded without specific syndromes. One case of consanguinity among parents was found. The mode of ascertainment is discussed and it is concluded that the present investigation presents a minimum prevalence figure. Four patients are presented who for various reasons were not available during the prevalence investigation proper. A prevalence figure of 0.6/100 000 is found if these 4 patients are included in the calculations. One of the last mentioned patients represented a familial case. The patient in question was a girl with a younger half-brother, the mother in common, both children being very typical cases of Cornella de Lange's syndrome.

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Six Cases of De Lange's Syndrome; Parental Consanguinity in Two

Cited by 28 publications

References 6 publications

Medical Disorders with Associated Dermatoglyphic Abnormalities

Medical Disorders with Associated Dermatoglyphic Abnormalities

Variability of the Brachmann‐de Lange Syndrome

Epidemiology of Cornelia De Lange's Syndrome

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