Oesophageal atresia in the South West of England.

David, T J; O'Callaghan, Sarah E.

doi:10.1136/jmg.12.1.1

Cited by 70 publications

(35 citation statements)

References 30 publications

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“…Therefore, it would be better to avoid this term at least for the autosomal recessive form of the syndrome. We propose the eponym ''David-O'Callaghan syndrome,'' because David and O'Callaghan [1975] first described sibs with this entity.…”

Section: Comparison Of Manifestations In the Autosomal Recessive Formmentioning

confidence: 98%

“…No finding is an obligate manifestation of any Mendelian syndrome. Although in the sporadic group hydrocephaly was a prerequisite for patient selection, in the autosomal recessive group there are 3 sibships [David and O'Callaghan, 1975;Evans et al, 1994a, b] where only one of the affected sibs had hydrocephaly, and 2 [Sujansky and Leonard, 1983;Evans et al, 1994a] where both sibs had this defect. Therefore, as to be expected, hydrocephaly may be lacking in some patients with the autosomal recessive VACTERL-H syndrome.…”

Section: Comparison Of Manifestations In the Autosomal Recessive Formmentioning

confidence: 99%

See 1 more Smart Citation

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Lurie

Ferencz

1997

Am. J. Med. Genet.

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Phenotypic manifestations of the autosomal recessive form of VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) and the X-linked recessive form (Hunter-MacMurray) syndrome are almost identical. The absence of cardiovascular malformations in cases with undoubtedly X-linked inheritance may be the only exception. The comparison of patients with David-O'Callaghan syndrome and nonclassified sporadic cases of VACTERL-hydrocephaly showed two marked differences. First, radial involvement (usually bilateral) occurred in all familial but only in 22 of 36 sporadic cases. Therefore, radial noninvolvement may be evidence against a genetic origin of the complex in a sporadic case. Second, predominantly severe forms of cardiovascular malformations were found in cases of David-O'Callaghan syndrome, whereas in sporadic cases almost all cardiovascular malformations were simple defects with minimal, if any, hemodynamic disturbances. The similarity of the spectrum and frequency of main manifestations of David-O'Callaghan and von Voss-Cherstvoy syndromes allows us to think that both of these syndromes actually might be 2 forms of one genetic entity. There are some syndromes with abnormalities of the brain (different for each syndrome) sharing the same limb defects (mainly preaxial), congenital heart defects, abnormalities of kidneys, and anal atresia/ectopia. Baller-Gerold syndrome, Steinfeld syndrome, XK-aprosencephaly, and DK-phocomelia (von Voss-Cherstvoy) syndrome as well as Mendelian forms of VACTERL-hydrocephaly syndromes fit into this "cerebro-cardio-radio-reno-rectal community."

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Section: Comparison Of Manifestations In the Autosomal Recessive Formmentioning

confidence: 98%

Section: Comparison Of Manifestations In the Autosomal Recessive Formmentioning

confidence: 99%

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Lurie

Ferencz

1997

Am. J. Med. Genet.

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“…The other 51 had prior full liveborn sibs or fetal deaths, giving a familial incidence of about 2 % . David and O'Callahan [1975] and Warren et a1 [1979] reported an increased frequency of neural tube defects in sibs of children with esophageal atresia. Later, Fraser et a1 119821 made the observation from their own studies and some reports in the literature that not only sibs of children with tracheo-esophageal dysraphism, but also with cleft lip/palate, extrophy of bladder, diaphragmatic hernia, and renal agensis may be at increased risk of having neural tube defects.…”

Section: Familial Occurrencementioning

confidence: 98%

Studies in neural tube defects I. Epidemiologic and etiologic aspects

Myrianthopoulos

Melnick

Opitz³

et al. 1987

Am. J. Med. Genet.

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In the NIH Collaborative Perinatal Project, a prospective study of over 53,000 pregnant women and their offspring, 71 single-born children (13.33/10,000) were found to have a non-syndromal neural tube defect (NTD). A family history was present in only one case. The group of individuals with NTD was compared to a group of 400 randomly selected non-malformed control infants. Of over 50 maternal factors studied the following showed significant association with NTD in the offspring: diabetes mellitus; organic heart disease; lung disease; and diuretic, antihistamine, and sulfonamide use. The interval between the termination of the immediately previous pregnancy and the start of the proband pregnancy was significantly shorter in mothers of NTD children than in mothers of control infants. The risk for NTD was also significantly increased if the immediately previous pregnancy was a spontaneous abortion. There was no increased risk for NTDs among sibs of children with major malformations such as tracheo-esophageal "dysraphism," cleft lip/palate, or renal agenesis. NTDs are apparently etiologically heterogeneous.

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“…Positive associations were found for low birth weight and multiple births (Robert et al, 1993;Bianca and Ettore, 2003;Forrester and Merz, 2005) and preterm birth (Robert et al, 1993;Rasmussen et al, 2001;Forrester and Merz, 2005). Among maternal characteristics examined, positive associations were found for advanced maternal age (>35 years) (Torfs et al, 1995;Forrester and Merz, 2005;Felix et al, 2008), younger maternal age (<20 years) (Depaepe et al, 1993), both advanced and younger ages (Szendrey et al, 1985;David and O'Callaghan, 1975), as well as white race (Forrester and Merz, 2005) and low parity (Robert et al, 1993;Bianca and Ettore, 2003).…”

Section: Introductionmentioning

confidence: 68%