Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Karjoo, Manouchehr; Koop, C. Everett; Cornfeld, David; Holtzapple, Philip G.

doi:10.1136/adc.48.2.143

Cited by 38 publications

(18 citation statements)

References 18 publications

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“…There was one reported case with atlantoaxial instability [Tuysuz et al, 2009]. There were two cases with other findings of CNS defects, specifically Dandy-Walker malformation, and hydrocephalus [Karjoo et al, 1973;Singh et al, 1988;Silengo et al, 2000], indicating overlap with other cilia-related disorders, including Joubert syndrome. Table II provides a summary of the outcome data on our 8 patients and the 118 cases in the literature.…”

Section: Resultsmentioning

confidence: 96%

“…When it is present, the postaxial polydactyly occurs most frequently in the distribution of bilateral hands and feet. The frequency of hepatic problems occurs in <30% of reported cases, and it is difficult to predict risk of developing liver disease based upon the presence of skeletal findings [Karjoo et al, 1973;Friedman et al, 1975;Oberklaid et al, 1977;Shah, 1980;Turkel et al, 1985;Hudgins et al, 1990;Labrune et al, 1999;Krakow et al, 2000;Kajantie et al, 2001;Ö zçay et al, 2001;Morgan et al, 2003;Yerian et al, 2003;Tuysuz et al, 2009;De Vries et al, 2010;Lehman et al, 2010]. In addition, from review of the literature, most cases with hepatic structural changes are identified at autopsy, but are usually clinically mild, stable, or resolve with therapy.…”

Section: Discussionmentioning

confidence: 93%

“…Intestinal malabsorption and failure to thrive have been observed [Karjoo et al, 1973]. The pancreas may show cystic changes and exocrine insufficiency [Karjoo et al, 1973].…”

Section: Discussionmentioning

confidence: 98%

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Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Keppler‐Noreuil

Adam

Welch

et al. 2011

American J of Med Genetics Pt A

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Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable renal, hepatic, pancreatic, and retinal complications. We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with the purposes of: (1) defining the clinical and radiological diagnostic criteria for Jeune syndrome; (2) comparing our cases to those in the literature meeting the documented clinical and radiological findings of Jeune syndrome, in order to: (3) provide an accurate clinical characterization of Jeune syndrome with frequency of associated complications and outcome data. In order to estimate the frequency of phenotypic abnormalities in Jeune syndrome as precisely as possible, we did not include reports in the literature with incomplete descriptions of the radiologic and clinical findings, nor those reports having additional findings overlapping with other syndromes. We found that the occurrence of renal, hepatic, and ophthalmologic complications is variable; does not correlate with severity of the skeletal phenotype; nor is it predictable even with the presence of a well-defined skeletal phenotype, as in this study. Based upon these cases with Jeune syndrome, renal and hepatic abnormalities occur in approximately 30% of cases, with renal failure occurring in 38% of those with kidney involvement. Eye abnormalities are reported in 15%, but it is unclear whether this represents under-ascertainment. There is a 1.2:1 ratio between living and deceased patients; a respiratory cause of death is most common, occurring almost exclusively in those less than 2 years of age, and a renal etiology accounts for all deaths between the ages of 3-10 years of age. There is a paucity of affected individuals reported in the literature greater than age 20 years, and a lack of longitudinal data to obtain accurate data on morbidity and mortality of Jeune syndrome at older ages. This study provides a well-defined group of patients with Jeune syndrome with delineation of the frequency of associated findings, which may form a basis for current and future genotype-phenotype studies.

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Section: Resultsmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 93%

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Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Keppler‐Noreuil

Adam

Welch

et al. 2011

American J of Med Genetics Pt A

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“…Other clinical manifestations are less common. They include cystic lesions of the pancreas [Karjoo et al, 1973], abnormalities of retinal pigmentation or tapetoretinal degeneration [Wilson et al, 1987], and dental and nail defects.…”

Section: Discussionmentioning

confidence: 99%

Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid

et al. 1999

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“…We identified 61 cases of copper deficiency in early childhood in the world literature , We compared the findings in these patients with those of 81 reported cases of Shwachnian's syndrome [1][2][3][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48]. From this larger group we selected the 38 patients for whom some clinical information relating to the 1st year of life was available [1, 2, …”

Section: Methodsmentioning

confidence: 99%

Hypothesis: Shwachman’s Syndrome of Exocrine Pancreatic Insufficiency May Be Caused by Neonatal Copper Deficiency

Paterson¹,

Wormsley

1988

Ann Nutr Metab

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Shwachman’s syndrome is, after cystic fibrosis, the most common cause of exocrine pancreatic insufficiency in childhood. The cause of the disorder is not known but we were struck by the fact that the histological appearances of pancreatic atrophy in this condition resemble those seen in experimental copper deficiency, in which the pancreatic acinar damage persists long after the copper deficiency is relieved. Other features of Shwachman’s syndrome include neutropenia, anaemia and abnormalities of the ribs and of the metaphyses of long bones. All these findings have also been reported in children with copper deficiency during the 1st year of life. We suggest that some or all cases of Shwachman’s syndrome are caused by a period of copper deficiency in early infancy.

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Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Cited by 38 publications

References 18 publications

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid

Hypothesis: Shwachman’s Syndrome of Exocrine Pancreatic Insufficiency May Be Caused by Neonatal Copper Deficiency

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Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Cited by 38 publications

References 18 publications

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid

Hypothesis: Shwachman&rsquo;s Syndrome of Exocrine Pancreatic Insufficiency May Be Caused by Neonatal Copper Deficiency

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Hypothesis: Shwachman’s Syndrome of Exocrine Pancreatic Insufficiency May Be Caused by Neonatal Copper Deficiency