Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

Brueton, Louise; Dillon, M J; Winter, R M

doi:10.1136/jmg.27.4.252

Cited by 78 publications

(47 citation statements)

References 6 publications

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“…These abnormalities are indistinguishable from those seen in the hepaticpancreato-renal syndrome (HPRS). Brueton et al [1990] reported two patients with overlapping clinical data of JATD and HPRS with hepatic involvement present since birth, although in JATD, it is seen in later years. Hunter et al [1974] described other patients with liver ®brosis associated to diverse abnormalities, such as certain facial characteristics that are present in our patients, but in addition, their patients had ocular colobomata and encephalopathy.…”

Section: Discussionmentioning

confidence: 92%

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Esmer¹,

Alvarez-Mendoza²,

Lieberman³

et al. 2001

Am. J. Med. Genet.

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Liver fibrocystic disease (LFCD), characterized by dilatation of the intrahepatic bile ducts and variable degree of fibrosis, can be present alone or as part of many syndromes, such as Bardet-Biedl syndrome (BBS), Meckel syndrome, Jeune asphyxiating thoracic dysplasia, and Fraser-Jequier-Chen syndrome. We report two cases of LFCD and polydactyly with features similar, but not diagnostic of, BBS. Patient 1 was an 18-month-old boy with mental retardation, polydactyly, chronic renal failure, convergent strabismus, and hepatic fibrosis. Patient 2 was a male neonate with LFCD and polydactyly. Their manifestations could not be diagnosed as any of the previous mentioned entities. Difficulties in the early diagnosis of BBS have been previously reported and this could explain the clinical variability and heterogeneity of manifestations at the time of diagnosis. On the other hand, the existence of liver abnormalities in association with BBS has been previously described, but is rare. Our patients' malformations might represent a new entity where autosomal recessive inheritance is probable, but other patterns cannot be ruled out.

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Section: Discussionmentioning

confidence: 92%

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Esmer¹,

Alvarez-Mendoza²,

Lieberman³

et al. 2001

Am. J. Med. Genet.

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“…Age of occurrence has been variable. JATD can also occasionally be associated with GI malformations including cystic changes of the pancreas with fibrosis, Hirschsprung's disease, and malrotation as a manifestation of the ciliopathy [29,30].…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

2016

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Jeune syndrome or asphyxiating thoracic dystrophy (JATD) is a rare autosomal recessive disorder with an estimated incidence of 1 in 100,000 to 130,000 live births. The typical phenotype of JATD is osteochondrodysplasia (narrow thorax and shorted ribs) in association with short limb dwarfism. The thoracic dysplasia results in respiratory insufficiency, usually requiring tracheostomy and chronic mechanical ventilation beginning in infancy and childhood. Lateral thoracic expansion is one surgical procedure that has been described in an attempt to enlarge the thoracic cage and alleviate the progressive respiratory failure. In addition to respiratory involvement, patients with JATD may have other co-morbid conditions involving the kidneys, pancreas, liver, and eyes. Given the underlying thoracic dysplasia and other associated comorbid conditions, the intraoperative care of such patients can be challenging. We present two patients with JATD who presented for lateral thoracic expansion. Previous reports of the intraoperative care of such patients are reviewed and options for anesthetic care are discussed.

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“…10 Los pacientes que sobreviven pueden desarrollar falla renal progresiva, anomalías hepáticas, pancreáticas y retinales. 9,11 Los hallazgos radiológicos típicos incluyen los siguientes: 9 • Tórax estrecho, costillas cortas, horizontalizadas, clavículas altas, en manubrio.…”

Section: Introductionunclassified

Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante

et al. 2015

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Arch Argent Pediatr 2015;113(6):e357-e362 / e357Presentación de casos clínicos RESUMEN La displasia torácica asfixiante es una enfermedad infrecuente con compromiso multiorgánico y alta letalidad neonatal. Se presenta con baja estatura, miembros cortos, tórax estrecho. Con la edad, hay mejoría respiratoria, pero aparición de compromiso renal, hepático, pancreático y/o retinal. Objetivo: Describir la evolución a largo plazo de 8 pacientes de un hospital de pediatría. Métodos: Se evaluaron retrospectivamente edad de diagnóstico, sexo, variables antropométricas, complicaciones y radiología. Resultados: Masculino/femenino, 6/2. Edad al momento del diagnóstico mediana: 2,54 años. Evolución: 8/8, compromiso respiratorio; 3/8, renal; 2/8, hepático; 1/8, oftalmológico; 1/8, cardíaco. Mediana de estatura al momento del diagnóstico: -1,76 DE; crecimiento posnatal y proporciones corporales, normales. Radiología: 8/8, tórax estrecho y braquifalangia en manos. 5/8, anomalías acetabulares. Discusión: Es recomendable un seguimiento para monitorear la función renal, hepática y ocular. El pediatra debería sospechar esta entidad ante un recién nacido con tórax estrecho y dificultad respiratoria. Palabras clave: Crecimiento, estatura, displasia torácica asfixiante, síndrome de Jeune. ABSTRACTAsphyxiating Thoracic Dysplasia is an uncommon condition with multiple organ afectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment. Objective: to describe the long-term evolution of 8 patients of a pediatric hospital. Methods: we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology. Results: male/female 6/2. Median age at diagnosis: 2.54 years. Evolution: 8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante Clinical, radiological and auxologic long-term INTRODUCCIÓNLa displasia torácica asfixiante (DTA) o enfermedad de Jeune (OMIM 208500) es una enfermedad génica poco frecuente con compromiso multiorgánico. Tiene una incidencia estimada en EE.UU. de 1/100 000-130 000.1 Esta entidad, actualmente, se incluye dentro de las ciliopatías.2 Se ha descrito el compromiso de genes que codifican para proteínas de transporte intraflagelares (IFT80, DYNC2H1, WDR19, TTC21B). La herencia es autosómica recesiva, con considerable variabilidad en su expresión y heterogeneidad genética. 1,[3][4][5][6][7][8] El diagnóstico se realiza según criterios clínicos y radiológicos.9 Se caracteriza por baja estatura, miembros cortos, braquidactilia, polidactilia. Los hallazgos sobresalientes son un tórax estrecho y dificultad respiratoria.Las formas más graves presentan alta letalidad (60%-80%) en el período neonatal. 4 Con la edad, la malformación torácica y la gravedad del cuadro respiratorio t...

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Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

Cited by 78 publications

References 6 publications

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Liver fibrocystic disease and polydactyly: Proposal of a new syndrome

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

Evolución clínica, radiológica y auxológica a largo plazo de 8 niños con displasia torácica asfixiante

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