Jarcho Levin Syndrome

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Eliezer Masliah - One of the best experts on this subject based on the ideXlab platform.

  • aberrant pax1 and pax9 expression in Jarcho Levin Syndrome report of two caucasian siblings and literature review
    American Journal of Medical Genetics Part A, 2003
    Co-Authors: Sergei I Bannykh, Josef-karl Gerber, Shawn Clark Emery, Kenneth L Jones, Kurt Benirschke, Eliezer Masliah
    Abstract:

    We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho-Levin Syndrome (JLS). Segmentation anomalies of the vertebrae and ribs encompass a spectrum of Syndromes with or without associated anomalies of other developmental fields, and include spondylothoracic dysostosis (STD), JLS, Casamassima-Morton-Nance (CMN) Syndrome, and spondylocostal dysostosis (SCD), among others. In both these new JLS cases the autopsies confirmed that there were severe developmental alterations in the thoracic and vertebral skeleton (including “crab-like” thorax), accompanied in the older fetus by renal defects. Because vertebral development is controlled by a limited number of master genes including Pax1 and Pax9, we analyzed protein expression from these genes in these two cases compared to age-matched controls. Immunochemical analysis showed a significant reduction in levels of Pax1 and Pax9 protein expression in chondrocytes of the vertebral column. Implications for the etiology and pathogenesis of JLS and related disorders are discussed. © 2003 Wiley-Liss, Inc.

Robert M Campbell - One of the best experts on this subject based on the ideXlab platform.

  • expansion thoracoplasty for thoracic insufficiency Syndrome associated with Jarcho Levin Syndrome
    Jbjs Essential Surgical Techniques, 2015
    Co-Authors: Ajeya P Joshi, Megan K Roth, James W Simmons, F Shardonofsky, Robert M Campbell
    Abstract:

    [Introduction][1] Although surgical treatment of spondylothoracic dysplasia (STD) is controversial, we have found that an expansion thoracoplasty using a Vertical Expandable Prosthetic Titanium Rib (VEPTR; DePuy Synthes) results in favorable outcomes, including 100% survivability (at an average follow-up of 6.2 years), increased thoracic spinal length, and decreased requirements for ventilation support. [Step 1: Preoperative Preparation][2] Make anteroposterior and lateral radiographs of the spine. [Step 2: Position the Patient for the Procedure][3] The patient is placed in the prone position. [Step 3: The Incision][4] A curvilinear skin incision is made, starting proximally between the spine and the medial edge of the scapula. [Step 4: The Osteotomy][5] Perform the v-osteotomy. [Step 5: Placement of the VEPTR Device][6] A number-4 VEPTR-I device is wedged in, starting laterally within the osteotomy sites, wedging the osteotomies apart, distracting the superior ribs proximally and the inferior ribs distally, lengthening the hemithorax, and stopping approximately at the posterior axillary line, when there is maximum stress on the superior and inferior ribs, to avoid fracture, and the lamina spreaders are then removed. [Step 6: Wound Closure][7] Insert drains and local anesthetic catheters and close the wound. [Step 7: Expansion and Replacement Procedures][8] Lengthen the devices with the standard VEPTR technique of limited 3-cm incisions every three to six months. [Results][9] VEPTR treatment in patients with STD is associated with increased thoracic spine height and reduced thoracic width-to-height ratio, suggesting a greater gain in height than in width. [What to Watch For][10] [Indications][11] [Contraindications][12] [Pitfalls & Challenges][13] [Introduction][1] Although surgical treatment of spondylothoracic dysplasia (STD) is controversial, we have found that an expansion thoracoplasty using a Vertical Expandable Prosthetic Titanium Rib (VEPTR; DePuy Synthes) results in favorable outcomes, including 100% survivability (at an average follow-up of 6.2 years), increased thoracic spinal length, and decreased requirements for ventilation support. [Step 1: Preoperative Preparation][2] Make anteroposterior and lateral radiographs of the spine. [Step 2: Position the Patient for the Procedure][3] The patient is placed in the prone position. [Step 3: The Incision][4] A curvilinear skin incision is made, starting proximally between the spine and the medial edge of the scapula. [Step 4: The Osteotomy][5] Perform the v-osteotomy. [Step 5: Placement of the VEPTR Device][6] A number-4 VEPTR-I device is wedged in, starting laterally within the osteotomy sites, wedging the osteotomies apart, distracting the superior ribs proximally and the inferior ribs distally, lengthening the hemithorax, and stopping approximately at the posterior axillary line, when there is maximum stress on the superior and inferior ribs, to avoid fracture, and the lamina spreaders are then removed. [Step 6: Wound Closure][7] Insert drains and local anesthetic catheters and close the wound. [Step 7: Expansion and Replacement Procedures][8] Lengthen the devices with the standard VEPTR technique of limited 3-cm incisions every three to six months. [Results][9] VEPTR treatment in patients with STD is associated with increased thoracic spine height and reduced thoracic width-to-height ratio, suggesting a greater gain in height than in width. [What to Watch For][10] [Indications][11] [Contraindications][12] [Pitfalls & Challenges][13] [1]: #sec-12 [2]: #sec-13 [3]: #sec-14 [4]: #sec-15 [5]: #sec-16 [6]: #sec-17 [7]: #sec-18 [8]: #sec-19 [9]: #sec-20 [10]: #sec-21 [11]: #sec-22 [12]: #sec-23 [13]: #sec-24

  • veptr expansion thoracoplasty
    2011
    Co-Authors: Robert M Campbell
    Abstract:

    Thoracic insufficiency Syndrome results when deformity of the young spine and associated rib cage abnormalities cause loss of volume and function of the growing thorax, often affecting its ability to grow with the patient, with secondary compromise in growth of the underlying lungs. Disease categories most likely to cause this include fused ribs and congenital scoliosis, absence of ribs, neuromuscular or syndromic scoliosis, and hypoplastic thorax conditions such as Jeune’s asphyxiating thoracic dystrophy and Jarcho-Levin Syndrome. VEPTR expansion thoracoplasties enable enlargement of the thorax in these conditions, with maintenance of gains through outpatient surgical lengthening of implanted devices, resulting in improvement in clinical pulmonary health and survival rates.

Sergei I Bannykh - One of the best experts on this subject based on the ideXlab platform.

  • aberrant pax1 and pax9 expression in Jarcho Levin Syndrome report of two caucasian siblings and literature review
    American Journal of Medical Genetics Part A, 2003
    Co-Authors: Sergei I Bannykh, Josef-karl Gerber, Shawn Clark Emery, Kenneth L Jones, Kurt Benirschke, Eliezer Masliah
    Abstract:

    We report two consecutive Caucasian male siblings of nonconsanguineous parents autopsied at 22 and 13 weeks gestational age both with prenatal diagnosis of Jarcho-Levin Syndrome (JLS). Segmentation anomalies of the vertebrae and ribs encompass a spectrum of Syndromes with or without associated anomalies of other developmental fields, and include spondylothoracic dysostosis (STD), JLS, Casamassima-Morton-Nance (CMN) Syndrome, and spondylocostal dysostosis (SCD), among others. In both these new JLS cases the autopsies confirmed that there were severe developmental alterations in the thoracic and vertebral skeleton (including “crab-like” thorax), accompanied in the older fetus by renal defects. Because vertebral development is controlled by a limited number of master genes including Pax1 and Pax9, we analyzed protein expression from these genes in these two cases compared to age-matched controls. Immunochemical analysis showed a significant reduction in levels of Pax1 and Pax9 protein expression in chondrocytes of the vertebral column. Implications for the etiology and pathogenesis of JLS and related disorders are discussed. © 2003 Wiley-Liss, Inc.

Simon Carlo - One of the best experts on this subject based on the ideXlab platform.

  • mutations in the mesp2 gene cause spondylothoracic dysostosis Jarcho Levin Syndrome
    American Journal of Human Genetics, 2008
    Co-Authors: Alberto S Cornier, Karen Staehlinghampton, Kym M Delventhal, Yumiko Saga, Jeanfrancois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon Carlo
    Abstract:

    Spondylothoracic dysostosis (STD), also known as Jarcho-Levin Syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax. The shortened spine and trunk can severely affect respiratory function during early childhood. The condition is prevalent in the Puerto Rican population, although it is a panethnic disorder. By sequencing a set of candidate genes involved in mouse segmentation, we identified a recessive E103X nonsense mutation in the mesoderm posterior 2 homolog (MESP2) gene in a patient, of Puerto Rican origin and from the Boston area, who had been diagnosed with STD/JLS. We then analyzed 12 Puerto Rican families with STD probands for the MESP2 E103X mutation. Ten patients were homozygous for the E103X mutation, three patients were compound heterozygous for a second nonsense mutation, E230X, or a missense mutation, L125V, which affects a conserved leucine residue within the bHLH region. Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS.

Celiloglu Ozgu - One of the best experts on this subject based on the ideXlab platform.

  • Two cases of Jarcho-Levin Syndrome with meningomyelocele and hydrocephalus
    'Cukurova Medical Journal', 2017
    Co-Authors: Ece Umit, Yapicioglu Hacer, Kavuncu Ikram, Yurdakul, Gulseren Bilen, Yildirim Pelin, Celiloglu Ozgu
    Abstract:

    WOS: 000406284600025Jarcho-Levin Syndrome is associated with vertebra, central nervous system, cardiac, urinary and gastrointestinal system abnormalities. Incidence is 2.5/100000 and meningomyelocel and hydrocephalus is rare, in about 1/4 of the Jarcho-Levin cases. Patients die due to respiratory insufficiency. Here we present two cases of Jarcho-Levin Syndrome operated for meningomyelocele and hydrocephalus