Diaphragmatic Hernia With Homolateral Limb Reduction

Herman, T. E.; Siegel, Marilyn J.

doi:10.1038/sj.jp.7200518

Cited by 4 publications

(6 citation statements)

References 10 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%

See 1 more Smart Citation

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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“…We excluded cases with ectrodactyly consistent with Saal–Bulas syndrome [Saal and Bulas, 1995; Sheffield et al, 1998] and with radial ray aplasia [Bird et al, 1994; Jog et al, 2002] as found in Gershoni–Baruch syndrome [Gershoni‐Baruch et al, 1990]. Similarly, CDH with limb reduction defects or significant limb shortening [Hanssen et al, 1992; Tsukahara et al, 1995; Herman and Siegel, 2001] and with multiple pterygia, syndactyly, and polydactyly [Ramsing et al, 2000; cases 3–5] or with multiple pterygia, syndactyly, and oligodactyly [Hösli et al, 1997; Ramsing et al, 2000; cases 1–2] were not included.…”

Section: Methodsmentioning

confidence: 99%

Fryns syndrome: A review of the phenotype and diagnostic guidelines

Slavotinek

2003

American J of Med Genetics Pt A

105

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Fryns syndrome (FS) is the commonest autosomal recessive syndrome associated with congenital diaphragmatic hernia (CDH) and comprises CDH, pulmonary hypoplasia, craniofacial anomalies, distal limb hypoplasia, and internal malformations. Although there have been more than 50 case reports on probands with FS, the diagnostic guidelines were formulated from a review of eight patients and modifications to the guidelines have only once been suggested. Recently, several case reports have described new anomalies in FS and other papers have highlighted the variation in expressivity found in FS. This paper examines the medical literature on FS to define the phenotype and to review the diagnostic guidelines. We conclude that CDH with brachytelephalangy and/or nail hypoplasia is strongly suggestive of the diagnosis and that pulmonary hypoplasia, craniofacial dysmorphism, orofacial clefting, and polyhydramnios are sufficiently frequent to be diagnostically useful. Other distinctive malformations that are consistent with FS include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, neuronal or cerebellar heterotopias, abnormalities of the aorta, renal cysts, dilatation of the ureters, bicornuate uterus, renal dysplasia, proximal thumbs, and broad clavicles.

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“…6 We previously presented a single case of CDH with homolateral limb deficiency in 2001 (ref. 7), but wish to present this additional case because of the presence of the intrathoracic/abdominal mass or pouch containing phalangeal remnants. To the best of our knowledge, such remnants have not been reported previously in patients with the CDH and homolateral limb reduction association.…”

Section: Denouement and Discussionmentioning

confidence: 99%