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Asphyxiating thoracic dysplasia

Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) [1] that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune.[2] Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States.[1][3]

Asphyxiating thoracic dysplasia
Other namesJeune syndrome, asphyxiating thoracic chondrodystrophy, infantile thoracic dystrophy
CXR of a newborn with asphyxiating thoracic dysplasia. Note the short ribs.
SpecialtyMedical genetics 
SymptomsNarrow chest, short ribs, shortened bones of the arms and legs, unusually shaped pelvis, and extra fingers and/or toes
TreatmentMechanical ventilation, endotracheal suctioning, postural drainage, Vertical expandable prosthetic titanium rib (VEPTR), Lateral thoracic expansion, or other chest reconstruction surgeries.
Frequency1 in 100,000 to 130,000
DeathsMortality of affected: 60-70%

People who are affected with this disorder live short lives either only into infancy or early childhood.[2] If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as  IFT80, DYNC2H1, WDR19, IFT140 and TTC21B have been identified in some families with the condition as possible causes of the disorder. Treatment is based on the signs and symptoms present in each person.[4]

Types edit

Type OMIM Gene Locus
ATD1 208500 ? 15q13
ATD2 611263 IFT80 3q
ATD3 613091 DYNC2H1 11q

Signs and symptoms edit

 
Lateral CXR of the same person above

Jeune syndrome is a rare genetic disorder that affects the way a child's cartilage and bones develop. It begins before the child is born and primarily affects the child's rib cage, pelvis, arms and legs.[5] Usually, problems with the rib cage cause the most serious health problems for children with Jeune syndrome. Their rib cages (thorax) are smaller and narrower than usual, which inhibits the child's lungs from developing fully or expanding when they inhale. The child may breathe rapidly and shallowly. They may have trouble breathing when they have an upper or lower respiratory infection, like pneumonia. Breathing trouble can range from mild to severe. In some children, it is not noticeable, aside from fast breathing; however, in others, breathing problems can be fatal. About 60% to 70% of children with this condition die from respiratory failure as babies or young children. Children with Jeune syndrome who survive often develop problems with their kidneys, and over time they may experience kidney failure.[2] As a result, few children with Jeune syndrome live into their teen years. Children with Jeune syndrome have a form of dwarfism. They are short in stature, and their arms and legs are shorter than most people's.[6]

Diagnosis edit

Jeune syndrome is a rare autosomal recessive ciliopathy.[7] This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome (TIS). Diagnosis of Jeune syndrome can be made as early as before birth if signs and symptoms are apparent on an ultrasound; however, diagnosis after birth usually occurs through X-rays and genetic testing, such as the tests found on the Genetic Testing Registry (GTR).[8]

Treatment edit

Medical care edit

In order to help relieve respiratory distress, mechanical ventilation is required in most severe cases; while pulmonary infections that tend to lead to respiratory failure occur in less severe cases. In order to treat these infections, doctors may suggest antibiotics, endotracheal suctioning, or postural drainage.[9]

Surgical care edit

In severe cases, surgical action is needed; otherwise, failure to intervene can result in pulmonary damage and eventual fatality. Vertical expandable prosthetic titanium rib (VEPTR) surgery is the most common treatment for severe chest wall deformities. During this procedure, one or more titanium rods are attached to the ribs near the spine, which allow space for the patient's lungs to develop. Small adjustments are made every four to six months through a small incision in the patient's back.[10] Alternatively, lateral thoracic expansion is used to enlarge the chest wall by separating the ribs from their periosteum and covering them with titanium struts. This procedure is common among patients older than a year due to its safe and effective outcome. Chest reconstruction is another surgical procedure that promotes thoracic cage growth. It can be done as an enlargement of the thoracic cage by sternotomy and fixation with bone grafts, or a methylmethacrylate prostheses plate.[7]

References edit

  1. ^ a b Kondo, Hiroaki; Hyuga, Shunsuke; Fujita, Tomoe; Adachi, Mariko; Mochizuki, Junko; Okutomi, Toshiyuki (2021-02-11). "First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report". A&A Practice. 15 (2): e01400. doi:10.1213/XAA.0000000000001400. ISSN 2575-3126. PMID 33577174. S2CID 231898002.
  2. ^ a b c de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC (January 2010). "Jeune syndrome: description of 13 cases and a proposal for follow-up protocol". European Journal of Pediatrics. 169 (1): 77–88. doi:10.1007/s00431-009-0991-3. PMC 2776156. PMID 19430947.
  3. ^ Saletti D, Grigio TR, Tonelli D, Ribeiro Júnior OD, Marini F. Case report: anesthesia in patients with asphyxiating thoracic dys-trophy: Jeune syndrome. Rev Bras Anestesiol. 2012;62:424–431.
  4. ^ "Jeune syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-11-14.
  5. ^ Reference, Genetics Home. "Asphyxiating thoracic dystrophy". Genetics Home Reference. Retrieved 2019-11-14.
  6. ^ Jeune M, Beraud C, Carron R (1955). "[Asphyxiating thoracic dystrophy with familial characteristics]". Archives Françaises de Pédiatrie (in French). 12 (8): 886–91. ISSN 0003-9764. PMID 13292988.
  7. ^ a b "Asphyxiating Thoracic Dystrophy (Jeune Syndrome) Treatment & Management: Approach Considerations, Medical Care, Surgical Care". WebMD. 2019-11-10. {{cite journal}}: Cite journal requires |journal= (help)
  8. ^ Bianchi, Diana W.; Crombleholme, Timothy M.; D'Alton, Mary E. (2000). Fetology: Diagnosis & Management of the Fetal Patient. McGraw Hill Professional. ISBN 9780838525708.
  9. ^ Mayer, Oscar Henry (June 2009). "Management of thoracic insufficiency syndrome". Current Opinion in Pediatrics. 21 (3): 333–343. doi:10.1097/mop.0b013e328329a500. ISSN 1040-8703.
  10. ^ Philadelphia, The Children's Hospital of (2018-07-31). "Jeune Syndrome". www.chop.edu. Retrieved 2019-11-14.

External links edit

asphyxiating, thoracic, dysplasia, also, known, jeune, syndrome, rare, inherited, bone, growth, disorder, autosomal, recessive, skeletal, dysplasia, that, primarily, affects, thoracic, region, first, described, 1955, french, pediatrician, mathis, jeune, common. Asphyxiating thoracic dysplasia ATD also known as Jeune syndrome is a rare inherited bone growth disorder autosomal recessive skeletal dysplasia 1 that primarily affects the thoracic region It was first described in 1955 by the French pediatrician Mathis Jeune 2 Common signs and symptoms can include a narrow chest short ribs shortened bones in the arms and legs short stature and extra fingers and toes polydactyly The restricted growth and expansion of the lungs caused by this disorder results in life threatening breathing difficulties occurring in 1 in every 100 000 130 000 live births in the United States 1 3 Asphyxiating thoracic dysplasiaOther namesJeune syndrome asphyxiating thoracic chondrodystrophy infantile thoracic dystrophyCXR of a newborn with asphyxiating thoracic dysplasia Note the short ribs SpecialtyMedical genetics SymptomsNarrow chest short ribs shortened bones of the arms and legs unusually shaped pelvis and extra fingers and or toesTreatmentMechanical ventilation endotracheal suctioning postural drainage Vertical expandable prosthetic titanium rib VEPTR Lateral thoracic expansion or other chest reconstruction surgeries Frequency1 in 100 000 to 130 000DeathsMortality of affected 60 70 People who are affected with this disorder live short lives either only into infancy or early childhood 2 If they live beyond childhood breathing problems can improve with age but there is a possibility of developing severe kidney or heart problems Several mutations in different genes such as IFT80 DYNC2H1 WDR19 IFT140 and TTC21B have been identified in some families with the condition as possible causes of the disorder Treatment is based on the signs and symptoms present in each person 4 Contents 1 Types 2 Signs and symptoms 3 Diagnosis 4 Treatment 4 1 Medical care 4 2 Surgical care 5 References 6 External linksTypes editType OMIM Gene LocusATD1 208500 15q13ATD2 611263 IFT80 3qATD3 613091 DYNC2H1 11qSigns and symptoms edit nbsp Lateral CXR of the same person aboveJeune syndrome is a rare genetic disorder that affects the way a child s cartilage and bones develop It begins before the child is born and primarily affects the child s rib cage pelvis arms and legs 5 Usually problems with the rib cage cause the most serious health problems for children with Jeune syndrome Their rib cages thorax are smaller and narrower than usual which inhibits the child s lungs from developing fully or expanding when they inhale The child may breathe rapidly and shallowly They may have trouble breathing when they have an upper or lower respiratory infection like pneumonia Breathing trouble can range from mild to severe In some children it is not noticeable aside from fast breathing however in others breathing problems can be fatal About 60 to 70 of children with this condition die from respiratory failure as babies or young children Children with Jeune syndrome who survive often develop problems with their kidneys and over time they may experience kidney failure 2 As a result few children with Jeune syndrome live into their teen years Children with Jeune syndrome have a form of dwarfism They are short in stature and their arms and legs are shorter than most people s 6 Diagnosis editJeune syndrome is a rare autosomal recessive ciliopathy 7 This diagnosis is grouped with other chest problems called thoracic insufficiency syndrome TIS Diagnosis of Jeune syndrome can be made as early as before birth if signs and symptoms are apparent on an ultrasound however diagnosis after birth usually occurs through X rays and genetic testing such as the tests found on the Genetic Testing Registry GTR 8 Treatment editMedical care edit In order to help relieve respiratory distress mechanical ventilation is required in most severe cases while pulmonary infections that tend to lead to respiratory failure occur in less severe cases In order to treat these infections doctors may suggest antibiotics endotracheal suctioning or postural drainage 9 Surgical care edit In severe cases surgical action is needed otherwise failure to intervene can result in pulmonary damage and eventual fatality Vertical expandable prosthetic titanium rib VEPTR surgery is the most common treatment for severe chest wall deformities During this procedure one or more titanium rods are attached to the ribs near the spine which allow space for the patient s lungs to develop Small adjustments are made every four to six months through a small incision in the patient s back 10 Alternatively lateral thoracic expansion is used to enlarge the chest wall by separating the ribs from their periosteum and covering them with titanium struts This procedure is common among patients older than a year due to its safe and effective outcome Chest reconstruction is another surgical procedure that promotes thoracic cage growth It can be done as an enlargement of the thoracic cage by sternotomy and fixation with bone grafts or a methylmethacrylate prostheses plate 7 References edit a b Kondo Hiroaki Hyuga Shunsuke Fujita Tomoe Adachi Mariko Mochizuki Junko Okutomi Toshiyuki 2021 02 11 First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome A Case Report A amp A Practice 15 2 e01400 doi 10 1213 XAA 0000000000001400 ISSN 2575 3126 PMID 33577174 S2CID 231898002 a b c de Vries J Yntema JL van Die CE Crama N Cornelissen EA Hamel BC January 2010 Jeune syndrome description of 13 cases and a proposal for follow up protocol European Journal of Pediatrics 169 1 77 88 doi 10 1007 s00431 009 0991 3 PMC 2776156 PMID 19430947 Saletti D Grigio TR Tonelli D Ribeiro Junior OD Marini F Case report anesthesia in patients with asphyxiating thoracic dys trophy Jeune syndrome Rev Bras Anestesiol 2012 62 424 431 Jeune syndrome Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 2019 11 14 Reference Genetics Home Asphyxiating thoracic dystrophy Genetics Home Reference Retrieved 2019 11 14 Jeune M Beraud C Carron R 1955 Asphyxiating thoracic dystrophy with familial characteristics Archives Francaises de Pediatrie in French 12 8 886 91 ISSN 0003 9764 PMID 13292988 a b Asphyxiating Thoracic Dystrophy Jeune Syndrome Treatment amp Management Approach Considerations Medical Care Surgical Care WebMD 2019 11 10 a href Template Cite journal html title Template Cite journal cite journal a Cite journal requires journal help Bianchi Diana W Crombleholme Timothy M D Alton Mary E 2000 Fetology Diagnosis amp Management of the Fetal Patient McGraw Hill Professional ISBN 9780838525708 Mayer Oscar Henry June 2009 Management of thoracic insufficiency syndrome Current Opinion in Pediatrics 21 3 333 343 doi 10 1097 mop 0b013e328329a500 ISSN 1040 8703 Philadelphia The Children s Hospital of 2018 07 31 Jeune Syndrome www chop edu Retrieved 2019 11 14 External links edit Retrieved from https en wikipedia org w index php title Asphyxiating thoracic dysplasia amp oldid 1187213453, wikipedia, wiki, book, books, library,

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