Familial holoprosencephaly, heart defects, and polydactyly

Hennekam, Raoul C. M.; Noort, Gerard van; Fuente, A. A. De La

doi:10.1002/ajmg.1320410226

Cited by 20 publications

(7 citation statements)

References 13 publications

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“…Conversely, several patients with α thalassaemia-mental retardation syndrome (OMIM 301040) have been given the diagnosis of SLOS. Other disorders that resemble SLOS, but less so, are Meckel syndrome (OMIM 249000), hydrolethalus syndrome (OMIM 236680), Pallister-Hall syndrome (OMIM 146510), orofaciodigital syndrome type VI (OMIM 277170),12 13 112 118 119 and a number of individual case reports 74120-124 …”

Section: Differential Diagnosismentioning

confidence: 99%

The Smith-Lemli-Opitz syndrome

Kelley

Hennekam

2000

Journal of Medical Genetics

450

517

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The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for aVected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its eVects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS. (J Med Genet 2000;37:321-335)

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Section: Differential Diagnosismentioning

confidence: 99%

The Smith-Lemli-Opitz syndrome

Kelley

Hennekam

2000

Journal of Medical Genetics

450

517

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“…Those authors also emphasized the necessity of excluding the syndromes of hydrolethalus, Meckel, SmithLemli-Opitz, and Pallister-Hall in diagnostic attempts of pseudotrisomy 13 syndrome, and pointed to a need of further delineation of this entity. The phenotypic overlap between the syndromes of pseudotrisomy 13, hydrolethalus, and Smith-Lemli-Opitz was also stressed by Verloes et al [19911. In most cases, the lack of chromosomal abnormalities, affected sibs, and parental consanguinity suggested an autosomal recessive type of inheritance [Bachman et al, 1990;Hennekam et al, 1991;Seller et al, 19931. Although some overlap, including "short limbs,'' is observed between our cases and the syndromes of hydrolethalus and pseudotrisomy 13 (Table I>, our patients did not have renal and gastrointestinal anomalies.…”

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confidence: 98%

Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

et al. 1995

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We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome.

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“…Al1 3 diagnostic hallmarks of HPS were found in at least 24 published families [Karseras and Laurence, 1975;Brackertz et al, 1985;Lieber et al, 1986;Donnai et al, 1987;Young and Madders, 1987;Atkin, 1988;Donnai, 1988;André et al, 1989;Hewitt et al, 1989;Meinecke, 1989;Antich et al, 1990;Bachman et al, 1990;Ramaekers et al, 1990;Hennekam et al, 1991;Norman and Donnai, 1991;Rode and Duda, 1991;Verloes et al, 1991;Boles et al, 1992;Higgins and Minnick, 19921. In 6 of them, the parents were related [Brackertz et al, 1985;Donnai, 1988;Bachman et al, 1990;Hennekam et al, 1991;Norman and Donnai, 1991;Verloes et al, 1991 /case 4/1. Two sibs were affected in 6 families [Brackertz et al, 1985;Atkin, 1988;Bachman et al, 1990;Hennekam et al, 1991;Rode and Duda, 1991;Higgins and Minnick, 19921. In 7 out of 21 cases, the proband was the mother's only pregnancy.…”

Section: Resultsmentioning

confidence: 99%

“Holoprosencephaly‐polydactyly” (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum

Lurie

Wulfsberg

1993

Am. J. Med. Genet.

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Analysis of familial cases of the so called "holoprosencephaly-polydactyly" ("pseudotrisomy 13") syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case reports shows that each of these anomalies is only found in approximately 60% of affected sibs, and therefore these sentinel abnormalities are not required for diagnosis. We propose a widening of the phenotypic spectrum of this syndrome and consideration of the use of an eponomic name, such as the Cohen-Gorlin syndrome, or clear recognition that the sentinel findings of holoprosencephaly and polydactyly are not essential for diagnosis. We propose the following diagnostic criteria for the syndrome. The diagnostic criteria for sporadic cases would include a normal karyotype and either (1) a combination of holoprosencephaly and post-axial polydactyly with or without other characteristics, or (2) a combination of holoprosencephaly with other characteristics but without polydactyly, or (3) a combination of postaxial polydactyly, brain defects (microcephaly, hydrocephaly, agenesis of corpus callosum) and other characteristics. The diagnostic criteria for the familial cases would be the same, except that, as long as the other sibs have no abnormalities contradicting the diagnosis, a normal karyotype would be required in only one affected sib.

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Familial holoprosencephaly, heart defects, and polydactyly

Cited by 20 publications

References 13 publications

The Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome

Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

“Holoprosencephaly‐polydactyly” (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum

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