Restrictive Chest Bellows Disease and Frontometaphyseal Dysplasia

Lipson, Eric; Ahmed, Tahir; Kiel, Michael H.; Chediak, Alejandro D.

doi:10.1378/chest.103.4.1264

Cited by 6 publications

(6 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Scoliosis associated with FMD syndrome is usually mild [Weiss et al, 1976;Medlar and Crawford, 1978;Swank et al, 1982;Reardon et al, 1991;Lipson et al, 1993]. It has also been reported in females, as in the patient of Weiss et al [1976], who had typical features of FMD and conductive hearing loss; the patient's son, however, did not inherit this feature in association with FMD.…”

Section: Discussionmentioning

confidence: 99%

“…Mental retardation is uncommon in FMD [Reardon et al, 1991]. Scoliosis and conductive hearing loss [Weiss et al, 1976] are not frequently associated with the syndrome [Medlar and Crawford, 1978;Swank et al, 1982;Reardon et al, 1991;Lipson et al, 1993]. It has been suggested that FMD, the Melnick-Needles osteodysplasty syndrome (MNS), and oto-palato-digital syndrome (OPD) are allelic variants of the same bone dysplasia [Beighton and Hamersma, 1980;Robertson et al, 1997;Superti-Furga, 2000;Verloes et al, 2000].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Morava

Illés

Weisenbach

et al. 2002

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Frontometaphyseal dysplasia is a rare genetic syndrome affecting the skeletal system and connective tissue. It is believed to be inherited as an X-linked trait. Features of frontometaphyseal dysplasia overlap with other skeletal dysplasias. Prominent supraorbital ridges, radiologic evidence of cranial hyperostosis, and flared metaphyses are characteristic. Scoliosis, a rare associated finding, is usually mild, and familial progressive scoliosis has not been reported so far. The skeletal dysplasia and the associated clinical findings show significant intra- and interfamilial variability. The syndrome has been suggested to be an allelic variant of the Melnick-Needles osteodysplasty, an X-linked (dominant) entity. We present two families with frontometaphyseal dysplasia, in which both males and females showed the facial and skeletal features of the syndrome in association with progressive scoliosis. Some of the affected members also had hearing loss and urogenital anomalies, supporting the existence of the recently suggested entity "fronto-otopalatodigital-osteodysplasty syndome".

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Morava

Illés

Weisenbach

et al. 2002

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Holt et al [1972]; Stern et al [1972] 1st Malformation of the bronchial tree Arenberg et al [1974] 2nd Hyperopia and strabismus Sauvegrain et al [1975] 1st Pelvocaliceal and ureteral dilation 2nd Respiratory distress and wheezing Weiss et al [1976] S.C. Grade 2/6 systolic murmur Nerve conduction delay Kassner et al [1976] S.C. Pyelonephritis and hydronephrosis von Kleinsorge and Böttger [1977] S.C. Sellars and Beighton [1978] S.C. Cryptorchidism Böttger et al [1978] S.C. Medlar and Crawford [1978] S.C. Kanemura et al [1979] S.C. Uretral stenosis + anomalies of ureterovescical junction Gorlin and Winter [1980] S.C. Beighton and Hamersma [1980] S.C. Fitzsimmons et al [1982] 1st Urethral valves + hydronephrosis Narrowing of subglottic area Bilateral inguinal hernia + cryptorchidism 2nd Subglottic stenosis + anterior web Balestrazzi [1985] S.C.N. Pulmonary stenosis + atrial septal defect Cryptorchidism Lipson et al [1993] S.C. Glass and Rosenbaum [1995] 1st N. Singular atrioventricular valve Pulmonary stenosis Atrial septal defect Bilateral renal duplication 2nd N. Pulmonary atresia Tricuspid atresia Patent ductus arteriosus Present patient S.C.N. Esophageal atresia + inferior tracheoesophageal fistula *Abnormalities of glottis, trachea, and esophagus are in bold type.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 1997

View full text Add to dashboard Cite

Fronto-metaphyseal dysplasia (FMD) is an uncommon but clinically striking condition affecting bone and connective tissue. The terms used to define this syndrome fail to cover all the reported findings, the abnormalities not being confined to the metaphyses and to the frontal bones. We report on a patient who, in addition to the clinical manifestations characteristic of the syndrome, showed esophageal atresia with distal tracheoesophageal fistula. Particular emphasis is given to the extraskeletal manifestations of the syndrome reported in the literature.

show abstract

“…Mental retardation is uncommon in FMD [Reardon et al, 1991]. Scoliosis and conductive hearing loss [Weiss et al, 1976] are not frequently associated with the syndrome [Medlar and Crawford, 1978; Swank et al, 1982; Reardon et al, 1991; Lipson et al, 1993]. It has been suggested that FMD, the Melnick‐Needles osteodysplasty syndrome (MNS), and oto‐palato‐digital syndrome (OPD) are allelic variants of the same bone dysplasia [Beighton and Hamersma, 1980; Robertson et al, 1997; Superti‐Furga, 2000; Verloes et al, 2000].…”

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

View full text Add to dashboard Cite

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.

show abstract

Restrictive Chest Bellows Disease and Frontometaphyseal Dysplasia

Cited by 6 publications

References 11 publications

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families

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

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

Contact Info

Product

Resources

About