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

Genuardi, Maurizio; Silvestri, Evelina; Tozzi, C

doi:10.1002/ajmg.1320510315

Cited by 3 publications

(2 citation statements)

References 19 publications

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“… 1 van Dooren et al 2003, 2 Johnson et al 2000, 3–11 Watt 1917, McCredie and Reid 1978, Brossard et al 1987, Cunniff et al 1993, Jelsema et al 1993, Pankau and Janig 1993, Bozner et al 1995, Marino et al 2002, 12,13 Czeizel and Losonci 1987, Genuardi et al 1994, 14–16 Gershoni‐Baruch et al 1990, Bird et al 1994, Devriendt et al 1999, 17 Holmes et al 1995, 18–21 Kunze et al 1979, Patel et al 1997, Han et al 2000, Van Allen and Myhre 1991, 22 Lipson et al 1993, 23–28 Frias and Felman 1974, McCredie and Reid 1978, Gugliantini et al 1984, Bamforth et al 1992, St Charles et al 1993, Hou and Wang 1999, 29–31 Poidevin 1953, Gouw et al 1985, Barr 1987, 32 Evans et al 1993, 33 Reid and Huff 1990, 34 Uygur et al 2004, 35 Halal et al 1980, 36 Ullrich and Bohm 1977, 37 St Charles et al 1993, 38–40 Lerone et al 1992, Froster et al 1996, Wallerstein et al 1997, 41–53 Schulz and Niemann 1971, Holzgreve et al 1984, Stanley et al 1984, Schinzel 1990, Rodriguez et al 1992, Czeizel et al 1994, Saal and Bulas 1995, Pivnick et al 1998, Heinonen 1999, Herman and Siegel 2001, Youn and Toriello 2003, Falcon et al 2004, and Oner et al 2004. …”

Section: Resultsmentioning

confidence: 99%

“… 1 Lerone et al 1992, 2 Wallerstein et al 1997, 3 van Dooren et al 2003, 4–7 McCredie and Reid 1978, Gugliantini et al 1984, Hou and Wang 1999, Bamforth et al 1992, 8 Genuardi et al 1994, 9 Stanley et al 1984, 10 Rodriguez et al 1992, 11 Herman and Siegel 2001, 12 Heinonen 1999, 13 Cunniff et al 1993, 14 St Charles et al 1993, 15 Marino et al 2002, 16 Pankau and Janig 1993, 17 Johnson et al 2000, 18 St Charles et al 1993, 19 Oner et al 2004, 20 Czeizel et al 1994, 21 Holzgreve et al 1984, 22 Schulz and Niemann 1971, and 23 Frias and Felman 1974. …”

Section: Resultsmentioning

confidence: 99%

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Diaphragmatic defects and limb deficiencies—Taking sides

Evans¹

2007

American J of Med Genetics Pt A

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Diaphragmatic defects and limb deficiencies usually occur as independent anomalies, as a polytopic field defect (in which ipsilateral anomalies might be expected) or as wider pattern of defects, potentially involving disturbance of laterality or the midline (in which bilateral or contralateral defects would occur). Data on cases from previous studies and/or the literature were used to determine whether there is an association between the sides involved in the defects. The 88 adequately described cases identified included 20 with de Lange syndrome, seven with Poland anomaly, four with trisomy 18, 52 with other patterns of multiple malformations and five with diaphragmatic and limb defects alone. Evaluation of the position of the limb (left, right, bilateral) and the diaphragmatic defects (left, right, bilateral) did not show significant association in patterns of sidedness (P = 0.48). In 56% of cases, the limb deficiencies were bilateral. Among the 32 unilateral cases, 19 (59%) were ipsilateral (15 left; 4 right) and 13(41%) were contralateral (P = 0.38). Eleven of the 13 contralateral cases had left sided diaphragmatic defects and right sided limb deficiency; four had de Lange syndrome and nine had other patterns of multiple anomalies. Only cases with Poland anomaly or otherwise isolated defects showed a trend towards ipsilateral defects. Most cases with multiple congenital anomalies, had limbs defects on both the right and left (57%) or both sides of the diaphragm were affected (an additional 10%), indicating a widespread dysmorphogenetic process rather than a more restricted field defect. In other cases, defects were bilateral or, if unilateral, reflected the propensities for diaphragmatic defects to more often involve the left side, and limb defects, the right.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Diaphragmatic defects and limb deficiencies—Taking sides

Evans¹

2007

American J of Med Genetics Pt A

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E

Lachman

2007

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias

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Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII)

Chen

2008

Taiwanese Journal of Obstetrics and Gynecology

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Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

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

Cited by 3 publications

References 19 publications

Diaphragmatic defects and limb deficiencies—Taking sides

Diaphragmatic defects and limb deficiencies—Taking sides

E

Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII)

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