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Spondyloepiphyseal Dysplasia Congenita

SEDC


Presentation

  • Findings from the literature concerning diagnosis, presenting symptoms, and intervention taken are discussed. Additionally, a patient with a diagnosis of SED congenita who presented with bilateral hand numbness is described.[ncbi.nlm.nih.gov]
  • Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year.[ncbi.nlm.nih.gov]
  • Cervical vertebral body changes can result in spinal cord compression and laryngotracheal stenosis may be present. The management of such a patient presenting for elective Caesarean section under epidural anaesthesia is described.[ncbi.nlm.nih.gov]
  • The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed.[ncbi.nlm.nih.gov]
  • Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita.[ncbi.nlm.nih.gov]
Barrel Chest
  • We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies.[ncbi.nlm.nih.gov]
  • An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied by myopia and retinal detachment.[medical-dictionary.thefreedictionary.com]
  • Systemic Features: Dwarfism with kyphosis and a barrel chest are characteristic. The vertebrae are often flattened and malformed and the neck is short. Delayed ossification in the epiphyses and the os pubis is common.[disorders.eyes.arizona.edu]
  • Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints.[diseaseinfosearch.org]
  • SYMPTOMS: Clinical signs of SEDC are short trunk dwarfism, barrel-chested, myopia (near-sightedness), retinal detachment, knees may be misaligned, decreased hearing, cleft palate, and flat facial features.[ksginfo.org]
Respiratory Insufficiency
  • Several small series and case reports mention respiratory insufficiency or failure in a subset of patients with spondyloepiphyseal dysplasia congenita.[ncbi.nlm.nih.gov]
  • Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have been reported only rarely.[ncbi.nlm.nih.gov]
  • Children with spondyloepiphyseal dysplasia congenita also may experience hypotonia, progressive weakness, and respiratory insufficiency. Regular pediatric neurology and pulmonology follow-up is recommended.[consultant360.com]
  • insufficiency secondary to thoracic dysplasia problems with vision due to myopia or retinal detachment hip pain due to coxa varus decreased walking distance due to poor muscular endurance and skeletal deformities Physical exam inspection short stature[orthobullets.com]
Respiratory Distress
  • At birth, he experienced severe respiratory distress necessitating tracheotomy. Endoscopy done because mechanical ventilation failed to resolve desaturations disclosed severe tracheo-bronchomalacia.[ncbi.nlm.nih.gov]
  • Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have been reported only rarely.[ncbi.nlm.nih.gov]
Coxa Vara
  • Their height was less than -7SD of average Japanese of the same age, and all were associated with severe coxa vara.[ncbi.nlm.nih.gov]
  • Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.[ncbi.nlm.nih.gov]
  • RESULTS: Myelopathy was found in 9 individuals with severe SEDC who presented with marked short stature and severe coxa vara; of these, 6 had gait disturbances.[ncbi.nlm.nih.gov]
  • Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot).[en.wikipedia.org]
  • The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature.[consultant360.com]
Muscle Hypotonia
  • In spite of generalized muscle hypotonia, the patient's response to atracurium was normal. At the end of surgery, neuromuscular blockade was reversed and the trachea extubated.[journals.lww.com]
Normal Stature
  • The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement.[ncbi.nlm.nih.gov]
Short Neck
  • We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies.[ncbi.nlm.nih.gov]
  • The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a barrel-shaped thorax, a short neck, and mild ocular hypertelorism.[ncbi.nlm.nih.gov]
  • Aiden also has a short neck and pubic bones that aren't yet fully ossified (still soft bone, the cartilage hasn't fully hardened yet). Another pointer to this type of skeletal dysplasia is that the discs in the bottom of his spine are thinner.[littlefireosuna.blogspot.com]
  • Physical examination revealed a child (85cm dwarf) with rounded facies, hypertelorism, knock-knee, thoracic kyphoscoliosis, pes cavus, low hairline, and short neck. There was generalized hypotonia of the limb and abdominal muscles.[journals.lww.com]
  • Most cases result from new mutations in the gene and occur in people with no family history of the condition. 0000774 Platyspondyly Flattened vertebrae 0000926 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature[rarediseases.info.nih.gov]

Treatment

  • A case of spondyloepiphyseal dysplasia congenita (SEDC) with thoracolumbar kyphosing scoliosis and a clinical outcome of the patient's surgical treatment are reported.[ncbi.nlm.nih.gov]
  • Preliminary but limited data suggest that there may be a role for sildenafil in the treatment of PPHN. We report the successful treatment of PPHN caused by pulmonary hypoplasia in a patient with spondyloepiphyseal dysplasia congenita.[ncbi.nlm.nih.gov]
  • There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.[rarediseases.info.nih.gov]
  • Others will need non-surgical or surgical treatments to address specific aspects of their condition.[en.wikipedia.org]
  • […] jogging (Spondyloepiphyseal dysplasia Treatment, 2008).[biology-research.blogspot.com]

Prognosis

  • Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients.[ncbi.nlm.nih.gov]
  • The description and natural history of the double heterozygote phenotype may be useful in counseling families regarding risk and prognosis.[ncbi.nlm.nih.gov]
  • The description and natural history of the double heterozygote phenotype may be useful in counseling families regarding risk and prognosis. Am. J. Med. Genet. 104:140-146(2001) [ PubMed ] [ Europe PMC ][uniprot.org]
  • Full text article available by contacting [email protected] Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.[lpamrs.memberclicks.net]
  • If you have questions about how your child’s condition and any related health issues may affect your child’s prognosis or long-term goals, talk to your child’s healthcare provider.[chop.edu]

Etiology

  • The clinical findings and radiographic features are presented and the etiology and neurosurgical management of spondyloepiphyseal dysplasia congenita are discussed.[ncbi.nlm.nih.gov]
  • Etiology SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). Genetic counseling The inheritance is autosomal dominant. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Scheuermann disease, (OMIM 181440 ) a term applied to premature osteoarthritis of the spine, regardless of the etiology Spondyloperipheral dysplasia, (OMIM 271700 ) inherited in an autosomal dominant manner; also presents with short hands, feet, and ulnae[ncbi.nlm.nih.gov]
  • Bailey suggested two groups in addition to SED congenita and SED tarda: pseudo-Morquio disease and pseudoachondroplasia SED. [9] In this article, only the most common types of SED (ie, SED congenita and SED tarda) are discussed in detail. [10] Etiology[emedicine.com]

Epidemiology

  • Summary Epidemiology The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected.[orpha.net]
  • Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics[orthobullets.com]
  • Epidemiology International statistics SED congenita is a rare genetic disorder. The prevalence is approximately 3.4 per million population. [7] The incidence rate is approximately 1 per 100,000 live births.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Introduction A form of short-trunk dwarfism caused by a defect in the secondary ossification center (epiphysis) Epidemiology rare Pathophysiology caused by abnormal synthesis of Type II collagen primarily affects the vertebrae and epiphysis of bone Genetics[orthobullets.com]
  • Spranger and Langer provided a further review of 29 patients in 1970. [2] In 1969, Fraser noted the particular association of SED with myopia, retinal detachment, and deafness. [3] In 1939, Jacobsen recognized SED tarda in a report of 20 patients. [4] Pathophysiology[emedicine.com]

Prevention

  • Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis.[ncbi.nlm.nih.gov]
  • Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U1 small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele.[ncbi.nlm.nih.gov]
  • Secondary prevention of SEDC can be achieved by prenatal diagnosis. Reports of antenatally-diagnosed SEDC fetuses have been very rare and molecular prenatal diagnosis even rarer.[ncbi.nlm.nih.gov]
  • Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.[ghr.nlm.nih.gov]

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