Presented at the International Skeletal Dysplasia Society Meeting. 2013, Available at http://isdsbologna2013.org/blog/presentation/mmp2013-mutations-are-the-cause-of-recessive-metaphyseal-dysplasia-spahr-type/. 8. [nature.com]

Institutional and academic committees 2011-present, Member Research Trainee Advisory Committee, Children's Hospital of Philadelphia 2010-present, Member Division of Endocrinology Fellowship Committee, Children's Hospital of Philadelphia [chop.edu]

The present children showed a transient dip in the growth curve in their late infancy and early childhood. It remains unknown whether this growth decline is an essential part of the present disorder. [dev.docslide.net]

Here we describe the molecular characterization of skeletal dysplasia in two brothers who presented with short stature and mixed epiphyseal and metaphyseal dysplasia. [ncbi.nlm.nih.gov]

• Delayed Growth and Development

  Common features include a cleft in the lip or palate, abnormal facial features, limb or skeletal abnormalities, intellectual disability and delayed growth and development. [centogene.com]

• Dentist

  Dentists may notice malocclusion, an inability of the teeth to properly close. Some spinal changes are possible, associated with the flaring of tubular bones. These may include platyspondyly, a broadening of the vertebrae. [encyclopedia.com]

• Malocclusion

  Dentists may notice malocclusion, an inability of the teeth to properly close. Some spinal changes are possible, associated with the flaring of tubular bones. These may include platyspondyly, a broadening of the vertebrae. [encyclopedia.com]

• Receding Chin

  These include prominent, widely spaced eyes, a receding chin, or a highly arched palate. Some affected adults develop unusually hardened bones in the back of the head, which sometimes results in deafness and/or blindness. [encyclopedia.com]

• Normal Stature

  The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. [link.springer.com]

  Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. [uniprot.org]

  Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. Sequence similarities Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. [abcam.com]

• Lordosis

  The spine was normal except for mild reversal of cervical lordosis. Patient 2 presented at age 7 years and 5 months for evaluation of abnormal gait and skeletal dysplasia. [nature.com]

  Achondroplasia is characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. The estimated incidence is at about 1/25,000 live births worldwide. [blueprintgenetics.com]

• Knee Pain

  The MDST phenotype is associated with moderate short stature and knee pain in adults, while extra-skeletal complications are not observed. The sequencing showed that MDST segregated with a c.619T>G single nucleotide transversion in MMP13. [orbilu.uni.lu]

  The proband, patient 1, presented at age 15 years for evaluation of chronic knee pain and skeletal dysplasia. He was 149.8 cm ( Supplementary Figure 1–4 ). Narrowing of the joint space was seen at the knee. [nature.com]

• Flaring of the Lower Rib Cage

  Other special features may include an outward "flaring" of the lower rib cage, bowed legs, leg pain, a normal spine, and a hip deformity that causes the thigh bone to angle toward the body's center. [encyclopedia.com]

• Short Legs

  It is characterized by short stature with short legs, bowing of the long bones, coxa vara, and waddling gait. [blueprintgenetics.com]

• Suggestibility

  Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses suggesting a diagnosis of MANDP. [ncbi.nlm.nih.gov]

  The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance. [link.springer.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

Givon U, Schindler A, Ganel A (2001) Hemichondrodiastasis for the treatment of genu varum deformity associated with bone dysplasias. J Pediatr Orthop 21: 238–241 PubMed CrossRef Google Scholar 10. [link.springer.com]

Substances used in the maintenance and treatment of aircraft, including aviation engine oil, hydraulic fluid, cleaning compounds and de-icing fluids, can contaminate the ECS. [wikivisually.com]

A Highly Selective and Orally Bioavailable Matrix Metalloproteinase-13 Inhibitor for the Potential Treatment of Osteoarthritis. Journal of Medicinal Chemistry., 59 (1): 313-327. 8. [guidetopharmacology.org]

The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. [ncbi.nlm.nih.gov]

MDST allows distinction of it from dominant conditions (e.g., metaphyseal dysplasia, Schmid type; OMIM # 156500) and from more severe multi-system conditions (such as cartilage-hair hypoplasia; OMIM # 250250) and to give precise recurrence risks and prognosis [orbilu.uni.lu]

References: Overexpression of MMP13 is associated with clinical outcomes and poor prognosis in oral squamous cell carcinoma. Vincent-Chong VK, et al. ScientificWorldJournal, 2014. PMID 25401159. [aimplexbio.com]

Prognosis In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy. [encyclopedia.com]

[PUBMED Abstract] Wright VC, Chapman W: Intraepithelial neoplasia of the lower female genital tract: etiology, investigation, and management. Semin Surg Oncol 8 (4): 180-90, 1992 Jul-Aug. [cancerinfo.tri-kobe.org]

Epidemiology of Skeletal Health in Type 1 Diabetes. Curr Osteoporos Rep. 2016 Dec;14(6):327-336. PMID: 27744554. 2015 George S, Weber DR, Kaplan P, Hummel K, Monk HM, Levine MA. (2015). [urmc.rochester.edu]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

[…] carcinoma from 25 epidemiological studies. [cancerinfo.tri-kobe.org]

It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [targetexplorer.ingenuity.com]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

The uterine relaxant ef- fect of "2-adrenoceptor agonists, such as terbutaline or fenoterol, can be used to prevent premature labor. [telefericopuertoplata.com]

Alternatively, nonsense-mediated decay of abnormal transcripts would be expected to prevent translation of protein. The variant was submitted to the Leiden Open Variation Database (LOVD, http://MMP13.lovd.nl ). [nature.com]

しかし、著者は“NCI's PDQ cancer information summary about breast cancer prevention states the risks succinctly: 【本要約からの抜粋を含める】.”のような一文を記述してもよい。 [cancerinfo.tri-kobe.org]