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Jeune syndrome

DOI:10.1136/pgmj.2007.066159
Authors:
M B O'Connor
M B O'Connor
M B O'Connor
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D P Gallagher
D P Gallagher
D P Gallagher
  • This person is not on ResearchGate, or hasn't claimed this research yet.
Eithne M T Mulloy at St. John's Hospital (Ireland)
Eithne M T Mulloy
  • St. John's Hospital (Ireland)
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LETTER
Jeune syndrome
Jeune syndrome was first described as
familial asphyxiating thoracic dystrophy in
a pair of siblings with severely narrow
thoracic cage by Jeune et al in 1955.
1
It is a
rare genetic disorder, with a poor survival
rate beyond the neonatal period,
2
known to
be genetically heterogeneous and charac-
terised by short limbs, underdeveloped iliac
wings and a narrow rigid thoracic cage,
which often results in asphyxiation.
1
Survival has been reported to the fourth
decade of life,
3
with no race or sex predilec-
tion. Incidence in the USA is estimated at 1
per 100 000–130 000 live births. One postu-
lated gene locus for this autosomal recessive
disorder is chromosome 15q13.
4
Early pre-
natal diagnosis is not possible; however,
detailed skeletal survey scanning after
14 weeks gestation can detect defining
deformities.
The more common signs of Jeune syn-
drome include short horizontal ribs, irregular
costochondral junction, small thoracic cage,
short stature, nail dysplasia, asplenia, early
fusion between epiphyses and metaphyses,
mental retardation, hydrocephalus and ret-
inal degeneration. Respiratory symptoms
vary widely from respiratory failure and
infantile death to latent phenotype without
respiratory symptoms. Polyuria, polydipsia
and hypertension may be present during the
second or third year of life.
Alveolar hypoventilation is caused by
impaired chest expansion as a result of short
horizontally placed ribs. Approximately 60–
70% of homozygous carriers die from
respiratory failure in early infancy and early
childhood. Chronic renal failure may ensue
in survivors during infancy, early adoles-
cence or second decade of life. Few patients
reach adolescence or adulthood.
The treatment of Jeune syndrome can be
divided into two categories: standard thera-
pies and investigational therapies.
Standard therapies are symptomatic and
supportive. Past procedures attempted to
improve respiration by expanding the con-
strictive thorax by releasing the ribs at the
costochondral junction without clear bene-
fit. Some success has been seen by expand-
ing the thorax through a longitudinal
division of the sternum held open with bone
graft, acrylic implants, metal plates or donor
bone grafts. Posterolateral expansion of the
rib cages has also been accomplished with
osteotomies and plate fixation. Renal dys-
function is managed with dialysis or trans-
plantation. Liver disease is treated with
phenobarbital or ursodeoxycholic acid.
Asphyxia requires immediate respiratory
support, with cardiopulmonary resuscita-
tion, endotracheal intubation and supple-
mental oxygen as required.
Investigational therapies on the other
hand are limited, with Christus Santa Rosa
Children’s Hospital, San Antonio, Texas,
USA being one of the leading centres. Here
the ‘‘Titanium Rib Project’’ oversees the
implantation of expandable prosthetic ribs
in such children.
M B O’Connor,
1
D P Gallagher,
1
E Mulloy
2
1
Department of Medicine, Mid-Western Regional Hospital,
Limerick, Ireland;
2
Department of Respiratory Medicine, St
Johns Hospital, Limerick, Ireland
Competing interests: None.
Postgrad Med J 2008;84:559.
doi:10.1136/pgmj.2007.066159
REFERENCES
1. Jeune M, Beraud C, Carron R. Asphyxiating thoracic
dystrophy with familial characteristics. Arch Fr Pediatr
1955;12:886–91.
2. Sankar VH, Phadke SR. Asphyxiating thoracic
dystrophy with facial dysmorphism. Indian J Pediatr
2006;73:1115–18.
3. Freidman JM, Kaplan HG, Hall JG. The Jeune
syndrome in an adult. Am J Med 1975;59:857.
4. Morgan NV, Bachelli C, Gissen P, et al. A locus for
asphyxiating thoracic dystrophy (ATD) maps to ch.15q
13. J Med Genet 2003;40:431–5.
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PostScript
Postgrad Med J 2008 Vol 84 No 996 559
group.bmj.com on March 19, 2013 - Published by pmj.bmj.comDownloaded from
doi: 10.1136/pgmj.2007.066159
2008 84: 559Postgrad Med J
M B O'Connor, D P Gallagher and E Mulloy
Jeune syndrome
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... In contrast to milder respiratory problems in our patients, compared with those described in most articles [7,8,[10][11][12][13], extraskeletal features affecting the eyes and kidney were highly expressed later in life. ...
... Renal involvement has been reported in 17-20% of JATD patients [10][11][12][13][14][17][18][19][20]. The kidneys are usually of normal or reduced size. ...
... It is important to establish a correct diagnosis since JATD might recur within the family [8,13,33]. In our series of JATD patients there were two sisters and two brothers. ...
Jeune syndrome with renal failure
Article
Full-text available
  • Jan 2017
Introduction/Objective. Jeune syndrome (JS) is a rare hereditary ciliopathy characterized by asphyxiating thoracic dystrophy, shortened limbs and brachydactyly. Extraskeletal anomalies such as chronic renal failure (CRF), hepatic fibrosis, and retinitis pigmentosa may be a part of the JATD phenotype. The aim of this study is to present long-term follow-up of JS patients with early progressive kidney disease. Methods. This is a retrospective study of pediatric patients with JS and CRF who were treated at the University Children’s Hospital between January 1980 and December 2014. The patients’ data were retrospectively reviewed from the medical records. Results. There were thirteen patients from 11 families, five girls and eight boys mean aged 4.3 years at the time of diagnosis. All of the patients had characteristic skeletal findings, retinal degeneration and an early onset of CRF at age range from 1.5 to 7 years. Five patients had neonatal respiratory distress and congenital liver fibrosis was diagnosed in five patients. One patient died due to complications of CRF, while others survived during follow-up of mean 11 years. IFT140 mutations were found in four genetically tested patients. Conclusion. The average incidence rate of JS with renal phenotype in Serbia was about 0.2 per one million of child population. Long-term survival of JS patients depends on renal replacement therapy, while skeletal dysplasia, growth failure, respiratory and eyes problems have impact on the patients’ quality of life.
... Jeune syndrome, also called asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia classically characterized by a narrow chest and variable limb shortness. 1,2 Complications include early childhood respiratory failure, renal failure, liver, and pancreatic abnormalities. 3,4 Ocular abnormalities, including waxy optic discs, narrow blood vessels, and retinal dystrophy, have also been described. ...
Thirteen Years' Progression of Macular Atrophy in a Patient With Jeune Syndrome
Article
  • Feb 2021
Jeune syndrome is a rare skeletal dysplasia with an associated retinal dystrophy. The authors describe a case of progressive bilateral macular atrophy (with multimodal imaging) in a patient with Jeune syndrome who was followed over 13 years. This case, confirmed with genetic testing, highlights the importance of characterizing the relationship between phenotype and genotype in this genetically heterogenous condition. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:107-109.].
... Chronic renal failure may require dialysis or transplantation. Liver disease is treated with phenobarbital or ursodeoxycholic acid [9]. Surgical options include lateral thoracic expansion or sternal and chest wall reconstruction. ...
An unusual case of hypercapnic respiratory failure
Article
Full-text available
  • Oct 2018
Asphyxiating thoracic dystrophy (ATD also known as Jeune syndrome) is a very rare disorder with an incidence in the United States of 1 case per 100,000–130,000 live births. Chronic alveolar hypoventilation leading to concurrent hypoxia is the main cause of morbidity and mortality in these patients due to its complications. A 22-year-old male with past medical history of ATD and severe kyphoscoliosis presented with progressively worsening shortness of breath for several days. Past surgical history was significant for multiple reconstructive sternal surgeries, his first surgery was at the age of two. His chest exam was without wheezing and was notable for symmetrically decreased breath sounds. Arterial blood gas showed PH 7.17, PCO2 155, PO2 95 and O2 saturation of 97% on 2 L nasal cannulae. PA and lateral chest xrays showed a long and severely narrow thoracic cavity. 2D echocardiography showed left ventricular ejection fraction of 55% and evidence of severe pulmonary hypertension. CT chest angiography showed severe dilatation of the pulmonary artery in comparison to ascending aorta and significant right ventricular enlargement. Right heart catheterization confirmed these findings with a mean pulmonary arterial pressure of 61 mmHg. Within several days of hospitalization, patient developed acute worsening of his chronic hypercapnic respiratory failure thought to be due to worsening of pulmonary arterial hypertension with right heart failure. This in return was attributed to underlying ventilatory failure secondary to severe thoracic dystrophy. ATD is an autosomal recessive genetic disorder. Mutations in the IFT80 gene, which encode for an intraflagellar protein, cause this protein to be defective. Clinically, ATD is characterized by a small, narrow chest and variable limb shortness. While ATD is compatible with life, respiratory failure and infections are often fatal during infancy. Patients that survive past the age of 2 have seen respiratory complications resolve due to less pronounced thoracic malformations, but in our case the main cause of worsening pulmonary function was the degree of pulmonary arterial hypertension and right heart failure. Patients with ATD usually develop progressive hypercapnic respiratory failure due to an abnormally small thorax. Surgical options include lateral thoracic expansion or sternal and chest wall reconstruction. However, these surgeries only add a few years to survival without a definitive cure.
Role of Primary Cilia in Skeletal Disorders
Article
Full-text available
  • Jun 2022
Primary cilia are highly conserved microtubule-based organelles that project from the cell surface into the extracellular environment and play important roles in mechanosensation, mechanotransduction, polarity maintenance, and cell behaviors during organ development and pathological changes. Intraflagellar transport (IFT) proteins are essential for cilium formation and function. The skeletal system consists of bones and connective tissue, including cartilage, tendons, and ligaments, providing support, stability, and movement to the body. Great progress has been achieved in primary cilia and skeletal disorders in recent decades. Increasing evidence suggests that cells with cilium defects in the skeletal system can cause numerous human diseases. Moreover, specific deletion of ciliary proteins in skeletal tissues with different Cre mice resulted in diverse malformations, suggesting that primary cilia are involved in the development of skeletal diseases. In addition, the intact of primary cilium is essential to osteogenic/chondrogenic induction of mesenchymal stem cells, regarded as a promising target for clinical intervention for skeletal disorders. In this review, we summarized the role of primary cilia and ciliary proteins in the pathogenesis of skeletal diseases, including osteoporosis, bone/cartilage tumor, osteoarthritis, intervertebral disc degeneration, spine scoliosis, and other cilium-related skeletal diseases, and highlighted their promising treatment methods, including using mesenchymal stem cells. Our review tries to present evidence for primary cilium as a promising target for clinical intervention for skeletal diseases.
A Preterm Neonate With Ectodermal Dysplasia, Cleft Palate And Entropion
Article
  • Apr 2014
DYNC2H1 Mutation Causes Jeune Syndrome and Recurrent Lung Infections Associated with Ciliopathy
Article
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6-mo-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.
Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”
Article
Full-text available
  • Feb 2017
Permissions and Reprints Abstract Our aim is to present the treatment of one of the skeletal manifestations of Jeune's syndrome (JS), the hypoplastic chest, which can result in thoracic insufficiency syndrome and present “on-demand” stage surgical technique using mandible locking plate system for the fixation of ribs. The diagnosis “Jeune's syndrome” was presented clinically in a 3-month-old girl from a family in which the first child died of JS at the age of 18 months. After close follow-up for several months and preoperative planning, we decided to make reconstructive chest operation with atypical use of a double-angled mandible locking plate for fixation. The plate was shaped as a “crown” to ensure the three dimension stability, from the dorsal part of the most curved ribs (paravertebrally) to the sternum after the resection of this area. Operation was done at the period of worsened breathing. For nearly 1 year, the rib cage preserved its stability and the child was in good condition. During the next 3 months, the upper part of the deformation started to grow inward fast. Second operation was “on demand,” and the implants used were mandible locking plates curved anterolaterally to effectuate extension of the rib cage and the sternum. In both the reconstructive operations, we spared the rectus and pectoral muscles and achieved good enlargement of the thoracic volume. The postoperative period is smooth and the child is active, without complications. We believe that in the future, the treatment should be “on demand” according to the course of the illness and the results of the follow-up examinations and adequate to the progress of chest wall deformity. Keywords Jeune's syndrome - asphyxiating thoracic dystrophy - mandible locking plate - thoracic insufficiency syndrome
Other Chest Wall Deformities
Chapter
  • Jan 2016
There are various other chest wall deformities that are worth discussing. These will be outlined in the following chapter. Jeune Syndrome, also known as Asphyxiating Thoracic Dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia with multiorgan involvement. It was first described by Jeune in 1954 and it affects 1 per 10,0000–13,0000 live births. There are two subtypes of the syndrome with severe subtype being incompatible with life. Poland syndrome (PS) is classified as a chondrocostal chest wall deformity with main clinical manifestation the underdevelopment or absence of the major pectorals muscle. It is a congenital unilateral chest wall deformity that affects both males and females in a ratio of 3:1 and with an incident variation from 1–7,0000 to 1–10,0000 live births. A rarer category of chest wall deformation is pectus arcuatum represents a rare category of chest wall deformities in the family of pectus anomalies and It includes mixed excavatum and carinatum features along a longitudinal or transversal axis resulting in a multiplanar curvature of the sternum and adjacent ribs. Sternal cleft represents a rare idiopathic chest wall deformity caused by a defect in the sternum’s fusion process. It accounts for 0.15 % of all chest wall deformities and there is an association with the Hexb gene. There are four types of sternal clefts according to the classification proposed by Schamberger and Welch in 1990.
Acquired Chest Wall Deformities and Corrections
Chapter
  • Dec 2016
Acquired deformities of the chest wall are malformations, which develop due to non-congenital causative factors. Based on etiology, three major categories of acquired chest wall malformations can be distinguished. (1) Primary disease of the chest wall itself can cause deformation of the chest wall. This includes tumors and infections affecting the chest wall with subsequent development of chest wall deformation. (2) The largest group of acquired chest wall deformities are iatrogenic in nature and occur as a result of previous surgical intervention to the chest wall, seen as acquired restrictive thoracic dystrophy or acquired Jeune’s syndrome in young patients following open correction of pectus excavatum deformity. Iatrogenic chest wall deformities may also develop following rip graft harvesting or failed closure of thoracotomies. (3) Post-traumatic deformities are a result of direct or indirect trauma to the torso. This chapter is aimed to provide a comprehensive overview of the spectrum of acquired chest wall deformities and to discuss their pathophysiology, diagnosis and treatment.
Asphyxiating thoracic dystrophy with renal involvement: A study of two cases
Article
  • May 2010
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Article
Full-text available
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy. In these families, as well as in a fifth consanguineous family from France, we localised a novel ATD locus (ATD) to chromosome 15q13, with a maximum cumulative two point lod score at D15S1031 (Zmax=3.77 at theta=0.00). Five consanguineous families shared a 1.2 cM region of homozygosity between D15S165 and D15S1010. Investigation of a further four European kindreds, with no known parental consanguinity, showed evidence of marker homozygosity across a similar interval. Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations.
Jeune syndrome in an adult
Article
  • Jan 1975
Asphyxiating thoracic dystrophy with familial characteristics [in French]
Article
  • Feb 1955
Asphyxiating thoracic dystrophy with facial dysmorphism
Article
Here it is reported a male newborn baby with features of asphyxiating thoracic dystrophy (ATD) with facial dysmorphism. The disproportionate rhizomelic short stature, narrow thorax, long fibulae, wide metaphysis and trident acetabule are consistent with diagnosis of ATD. In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date.