Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

Franceschini, P; Guala, Andrea; Licata, D; Franceschini, D.; Signorile, F.; Cara, Giuseppe Di

doi:10.1002/(sici)1096-8628(19971128)73:1<10::aid-ajmg3>3.0.co;2-t

Cited by 8 publications

(3 citation statements)

References 16 publications

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“…Long segment tracheal stenosis, however, was observed in neither of the two chromosomal conditions. Interestingly, airway obstruction may occur in the same syndromal disorder as esophageal atresia and tracheo‐esophageal fistula as, e.g., in familial frontometaphyseal dysplasia [Fitzsimmons et al, 1982; Franceschini et al, 1997]. Reviewing the literature on dup 12p and del 4q, we found that the same is true for the 4q‐syndrome.…”

Section: Discussionsupporting

confidence: 53%

Familial cryptic translocation with del 4q34?qter and dup 12pter?p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

Fritz¹,

Greber‐Platzer²,

Frischer³

et al. 2000

Am. J. Med. Genet.

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We report on two retarded half-sibs of different sex and seemingly normal karyotype who had the same syndrome of minor anomalies, heart defect and a distal tracheal stenosis, and who shared a healthy mother. These findings raised suspicions of a cryptic chromosome translocation. A translocation t(4;12)(q34;p13), balanced in the mother and unbalanced in the sibs with loss of terminal 4q and gain of terminal 12p regions, was verified by FISH using whole chromosome painting, subtelomeric and YAC probes. Clinical features could be explained by partial monosomy 4q and partial trisomy 12p. Tracheal stenosis was interpreted as a consequence of the same developmental disturbance leading to esophageal atresia and tracheo-esophageal fistula. It was attributed to the 4q deletion in which esophageal atresia as also respiratory difficulties and airway obstructions had been described. Paraffin-embedded placental tissues were available from three of the five abortions of the mother allowing DNA extraction and comparative genome hybridization (CGH). Two of the abortion specimens had the same der(4)t(4;12)(q34;p13) unbalanced translocation as identified in the sibs. In the third abortion specimen, suspicious of triploidy because of partial hydatidiform mole, CGH uncovered a tertiary trisomy 4 resulting from a 3:1 segregation of the translocation chromosomes and their homologs during maternal meiosis I. Differences in CGH results using DNA generated directly or after DOP-PCR were explained by DNA fragmentation in paraffin-embedded tissues and unequal amplification. Am. J. Med. Genet. 94:271-280, 2000.

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Section: Discussionsupporting

confidence: 53%

Familial cryptic translocation with del 4q34?qter and dup 12pter?p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

Fritz¹,

Greber‐Platzer²,

Frischer³

et al. 2000

Am. J. Med. Genet.

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“…Familial cases raised the possibility of an X‐linked trait [Beighton and Hamersma, 1980; Gorlin and Winter, 1980], or an autosomal dominant inheritance with variable expression [Weiss et al, 1976]. The association of upper airway malformations and recurrent respiratory symptoms have been emphasized by Franceschini et al [1997]. Mental retardation is uncommon in FMD [Reardon et al, 1991].…”

Section: Introductionmentioning

confidence: 99%

Synaptic and morphologic properties in vitro of premotor rat nucleus tractus solitarius neurons labeled transneuronally from the stomach

Glatzer

Hasney

Bhaskaran

et al. 2003

J of Comparative Neurology

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Neurons in the rat nucleus tractus solitarius (NTS) possess morphologic characteristics that have been correlated with the type of synaptic information they receive. These features have been described for viscerosensory neurons but not for premotor NTS neurons. The morphologic and synaptic features of neurons in the rat caudal NTS were assessed using whole-cell patch-clamp recordings and biocytin labeling in brainstem slices. Gastric-related premotor NTS neurons were identified for recording after inoculation of the stomach wall with a transneuronal retrograde viral label that reports enhanced green fluorescent protein. Three morphologic groups of NTS neurons were identified based on quantitative aspects of soma area and proximal dendritic arborization, measures that were consistent across slice recordings. The most common type of cell (group I) had relatively small somata and one to three sparsely branching dendrites, whereas the other groups had larger somata and more than three dendrites, which branched predominantly close to (group II) or distant from (group III) the soma. Voltage-clamp recordings revealed spontaneous excitatory and inhibitory postsynaptic currents in all neurons, regardless of morphology. Gastric-related premotor NTS neurons composed two of the three morphologic types (i.e., groups I and II). Compared with unlabeled neurons, these cells were less likely to receive constant-latency synaptic input from the tractus solitarius. These results refute the hypothesis that general patterns of synaptic input to NTS neurons depend on morphology. Gastric premotor neurons comprise a subset of NTS morphologic types, the organization of the viscerosensory input to which has yet to be defined.

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“…Ethical approval for this study was obtained from the Otago Ethics Committee. To obtain a consistent set of diagnostic criteria for the diagnosis of FMD, all reports of male patients previously diagnosed with the condition and described in sufficient detail were evaluated and phenotypic characteristics tabulated [Gorlin and Cohen, 1969; Holt et al, 1972; Danks and Mayne, 1974; Sauvegrain et al, 1975; Weiss et al, 1975, 1976; Kassner et al, 1976; Medlar and Crawford, 1978; Sellars and Beighton, 1978; Kanemura et al, 1979; Ullrich et al, 1979; Beighton and Hamersma, 1980; Fitzsimmons et al, 1982; Jend‐Rossmann et al, 1984; Leggett, 1988; Glass and Rosenbaum, 1995; Nishimura et al, 1995; Ehrenstein et al, 1997; Franceschini et al, 1997; Kung and Sloan, 1998; Boduroglu and Tuncbilek, 1999; Vinay et al, 2000; Morava et al, 2003; Zenker et al, 2004; Stefanova et al, 2005] (Tables I and II). Characteristics were divided into mandatory, major and minor features on account of their frequency and specificity for the disorder.…”

Section: Methodsmentioning

confidence: 99%

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

Robertson

Jenkins

Morgan

et al. 2006

American J of Med Genetics Pt A

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Frontometaphyseal dysplasia is an X-linked trait primarily characterized by a skeletal dysplasia comprising hyperostosis of the skull and modeling anomalies of the tubular bones. Extraskeletal features include tracheobronchial, cardiac, and urological malformations. A proportion of individuals have missense mutations or small deletions in the X-linked gene, FLNA. We report here our experience with comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with FMD. We found missense mutations leading to substitutions in the actin-binding domain and within filamin repeats 9, 10, 14, 16, 22, and 23 of filamin A in 13/23 (57%) of individuals in this cohort. Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. Although no phenotypic feature consistently discriminates between females with FMD who are heterozygous for FLNA mutations and those in whom no FLNA mutation can be identified, there is a difference in the degree of skewing of X-inactivation between these two groups. This observation suggests that locus heterogeneity may exist for this disorder.

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Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia

Cited by 8 publications

References 16 publications

Familial cryptic translocation with del 4q34?qter and dup 12pter?p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

Familial cryptic translocation with del 4q34?qter and dup 12pter?p13 in sibs with tracheal stenosis: Clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen

Synaptic and morphologic properties in vitro of premotor rat nucleus tractus solitarius neurons labeled transneuronally from the stomach

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

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