Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance

Czeizel, Andr̀ew E.; Losonci, A

doi:10.1007/bf00272395

Cited by 20 publications

(8 citation statements)

References 2 publications

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“…It has been suggested [8,19] that a general fusion abnormality may explain the simultaneous occurrence of multiple fusion defects such a diaphragmatic hernia, omphalocele, neural tube defect and cleft lip/palate, but this so-called schisis association cannot account for renal or limb defects. Of interest is the similarity between one of the present cases (Table 3, case 14) and cases 932/77 and 365/78 of Czeizel and Metneki [10,11]. In all these cases, two more-or-less distant relatives exhibited various combinations of multiple anomalies consisting of vertebral, renal, limb and diaphragmatic defects (mother and two children; sibs and first cousin; first cousins).…”

Section: Discussionsupporting

confidence: 64%

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Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

et al. 1991

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Congenital diaphragmatic defects (CDD) are easily accessible to ultrasonographic diagnosis. In spite of progress in the management of prenatally detected cases, the mortality rate for CDD remains high. The prognosis depends mainly on the severity of fetal lung hypoplasia but is also linked to the associated malformations. We report on 77 cases of CDD ascertained between 1982 and 1988 from 136,161 consecutive births in the Bouches du Rhône area. The spontaneous perinatal mortality rate was 61% with 28 early post-natal deaths and 14 stillbirths. Eight pregnancies were terminated after prenatal diagnosis. The diaphragmatic defect was associated with other congenital anomalies in 33 cases, more often among stillborn (92.8%) than liveborn infants (23.6%). A chromosomal abnormality was present in 9 cases representing 11.6% of all CDD and in 27.2% of cases with other anomalies. A Mendelian disorder was present in 9 cases (eight Fryns syndrome and one Fraser syndrome). This study underlines the necessity of a systematic work up of prenatally diagnosed cases, including fetal karyotyping and analysis of associated malformations in order to adapt the management of the pregnancy and delivery to the prognosis.

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Section: Discussionsupporting

confidence: 64%

“…Undiagnosed malformation syndromes were subjected to a systematic search of genetic and nongenetic syndromes using three computerized databases: GENDIAG [13], POSSUM [10] and LDDB [16].…”

Section: Methodsmentioning

confidence: 99%

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

et al. 1991

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“…To the best of our knowledge there is a single literature report concerning a similar combination of multiple congenital anomalies [Czeizel and Losonci, 19871, affecting mother and 2 brothers to a variable extent. These subjects were first briefly outlined [Czeizel and Meatneki, 1983;Czeizel and Kovacs, 19851, and their description was subsequently expanded by Czeizel and Losonci [1987]. An NTD was present in the mother, who had spinal dysraphism, and in one sib with lumbosacral spina bifida cystica.…”

Section: Discussionmentioning

confidence: 99%

Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel‐Losonci syndrome?

Genuardi¹,

Silvestri²,

Tozzi

1994

Am. J. Med. Genet.

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We report on a baby girl with absence of the left hemidiaphragm, lumbosacral myelomeningocele, syndactyly with limb deficiencies, and bilateral hydronephrosis. A similar array of malformations was described previously by Czeizel and Losonci [Hum Genet 77:203-204, 1987] in a single family which showed a transmission pattern suggesting autosomal dominant inheritance with variable expressivity. The presence of limb abnormalities and the location of the neural tube defects in these cases suggest that the underlying pathogenesis probably does not involve the same disturbances of midline field development which have been postulated to occur in the schisis association.

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“…Clinical features are limb anomalies such as split hands/split feet, preaxial deficiency, and syndactyly, urinary tract obstruction, neural tube defects such as spina bifida and CDH (Czeizel & Losonci, 1987).…”

Section: Czeizel-losonci Syndrome Omim #183802mentioning

confidence: 99%

Genetics of Congenital Diaphragmatic Hernia

Starker¹,

Staboulidou²,

Beck³

et al. 2012

Congenital Diaphragmatic Hernia - Prenatal to Childhood Management and Outcomes

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Split hand, obstructive urinary anomalies and spina bifida or diaphragmatic defect syndrome with autosomal dominant inheritance

Abstract: Three members of a nuclear family were affected by split hands and feet or syndactyly, obstructive urinary anomalies and spina bifida or diaphragmatic defect.

Cited by 20 publications

References 2 publications

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel‐Losonci syndrome?

Genetics of Congenital Diaphragmatic Hernia

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