1990
DOI: 10.1007/bf01959481
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The Marshall-smith syndrome

Abstract: The Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. This report describes the 17th published case of this rare disorder.

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Cited by 15 publications
(6 citation statements)
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“…We found 43 patients with MSS or a very similar phenotype described in the literature [Marshall et al, 1971;Nabrady and Bozalyi, 1973;Tipton et al, 1973;Visveshwara et al, 1974;De Toni et al, 1976;Hassan et al, 1976;Perrin et al, 1976;Iafusco et al, 1977;Ferran et al, 1978;Flatz and Natzschka, 1978;LaPenna and Folger, 1982;Johnson et al, 1983;Menguy et al, 1986;Roodhooft et al, 1988;Yoder et al, 1988;Smyth et al, 1989;Charon et al, 1990;Eich et al, 1991;Pappas and Rekate, 1991;Sperli et al, 1993;Sharma et al, 1994;Endo et al, 1995;Cullen et al, 1997;Williams et al, 1997;Antila et al, 1998;Chatel et al, 1998;Dernedde et al, 1998;Seidahmed et al, 1999;Summers et al, 1999;Moon et al, 2002;Sumiya et al, 2002;Wang, 2002;Diab et al, 2003;Watanabe et al, 2003;Butler, 2004;Adam et al, 2005;Deshpande et al, 2006;Travan et al, 2008]. A summary of the major manifestations of 39 published cases (excluding the 4 that have been updated here) is shown in Table II.…”
Section: Discussionsupporting
confidence: 63%
“…We found 43 patients with MSS or a very similar phenotype described in the literature [Marshall et al, 1971;Nabrady and Bozalyi, 1973;Tipton et al, 1973;Visveshwara et al, 1974;De Toni et al, 1976;Hassan et al, 1976;Perrin et al, 1976;Iafusco et al, 1977;Ferran et al, 1978;Flatz and Natzschka, 1978;LaPenna and Folger, 1982;Johnson et al, 1983;Menguy et al, 1986;Roodhooft et al, 1988;Yoder et al, 1988;Smyth et al, 1989;Charon et al, 1990;Eich et al, 1991;Pappas and Rekate, 1991;Sperli et al, 1993;Sharma et al, 1994;Endo et al, 1995;Cullen et al, 1997;Williams et al, 1997;Antila et al, 1998;Chatel et al, 1998;Dernedde et al, 1998;Seidahmed et al, 1999;Summers et al, 1999;Moon et al, 2002;Sumiya et al, 2002;Wang, 2002;Diab et al, 2003;Watanabe et al, 2003;Butler, 2004;Adam et al, 2005;Deshpande et al, 2006;Travan et al, 2008]. A summary of the major manifestations of 39 published cases (excluding the 4 that have been updated here) is shown in Table II.…”
Section: Discussionsupporting
confidence: 63%
“…The clinical findings of previously reported cases are summarized in Table I. Polyhydramnios could have been the consequence of digestive motility dysfunction (Charon et al, 1990). Upper airway obstruction including choanal atresia (or stenosis), obstructive tongue and abnormal larynx (or laryngomalacia).…”
Section: Discussionmentioning
confidence: 99%
“…The radiographic findings were sufficiently characteristic to differentiate this syndrome from other causes of accelerated skeletal maturation and are present at birth. Occasionally, other anomalies have been reported, such as scoliosis (Marshall et al, 1971;Nabrady and Bozalyi, 1973;Hassan et al, 1976;Baldellou Vazquez et al, 1983;Rodriguez-Fernandez et al, 1986;Washington et al, 1993), choanal atresia or stenosis (Tipton et al, 1973;Visveshwara et al, 1974;Perrin et al, 1976;Iafusco et al, 1977;Flatz and Natzschka, 1978;Menguy et al, 1986), high-arched palate (Visveshwara et al, 1974;Okada et al, 1977;Baldellou Vazquez et al, 1983;Yoder et al, 1988;Charon et al, 1990;Ishikawa et ai., 1991), well developed calcaneus (Tipton et al, 1973;Hassan et al, 1976;Ferran et al, 1978;Flatz and Natzschka, 1978;Menguy et al, 1986;Ishikawa et al, 1991), deep hand or foot creases (Visveshwara et al, 1974;Johnson et al, 1982;Charon et al, 1990;Eich et al, 1991;Sperli et al, 1993), short sternum (Ferran et al, 1978;Johnson et al, 1982), cardiovascular defects (Perrin et al, 1976), hydronephrosis with megaureter (Hassan et al, 1976), and immunological abnormalities (Johnson et al, 1983).…”
Section: Discussionmentioning
confidence: 99%
“…Marshall-Smith syndrome (MSS) is an infrequently described malformation syndrome first reported by Marshall et al (1971) and characterised by ID, abnormal bone maturation, failure to thrive, severe respiratory problems and unusual facial features. To date, some 45 cases with this syndrome have been reported internationally in various languages, usually as single case reports or small groups (Marshall et al 1971;Nabrady & Bozalyi 1973;Tipton et al 1973;Visveshwara et al 1974;De Toni et al 1976;Hassan et al 1976;Perrin et al 1976;Iafusco et al 1977;Ferran et al 1978;Flatz & Natzschka 1978;LaPenna & Folger Jr 1982;Johnson et al 1983;Menguy et al 1986;Roodhooft et al 1988;Yoder et al 1988;Smyth et al 1989;Charon et al 1990;Eich et al 1991;Pappas & Rekate 1991;Sperli et al 1993;Sharma et al 1994;Endo et al 1995;Cullen et al 1997;Williams et al 1997;Antila et al 1998;Chatel et al 1998;Dernedde et al 1998;Seidahmed et al 1999;Summers et al 1999;Moon et al 2002;Sumiya et al 2002;Wang 2002;Diab et al 2003;Watanabe et al 2003;Butler 2004;Adam et al 2005;Deshpan...…”
Section: Introductionmentioning
confidence: 99%