Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. [unboundmedicine.com]

Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. [bioportfolio.com]

Besides these four types there are individual cases that can not be classified at present. the appropriate genetic counseling can be given. There is no specific treatment for any of the types of brachyolmia. [streetdirectory.com]

Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. [books.google.ro]

Acronym BCYM4 Synonyms SEMD Pakistani type Spondylodysplasia and premature pubarche Spondylometaepiphyseal dysplasia Pakistani type Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

• Precocious Puberty

  More recently, clinicians from Western Europe have described a girl of Turkish origin with PAPSS2 sequence variants who suffered from precocious puberty and bone problems, although her skeletal defects were far milder than those found in other people [riken.jp]

  puberty-obesity syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-spastic [se-atlas.de]

• Lower Extremity Pain

  Broderick, MD, ASSR Member Excerpta Extraordinaire Excerpta A 27 year-old man presented with a 1 year history of progressive bilateral lower extremity pain and numbness radiating from his lower back. [theassr.org]

• Disproportionate Short Stature - Short Trunk

  Ribosomopathy hsa03008 Ribosome biogenesis in Eukaryotes H00519 Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk [kegg.jp]

• Heart Murmur

  Past medical history was significant for a heart murmur at birth which required no treatment or prophylaxis. Physical examination was unremarkable except for a short stature with a height of 158 cm. [theassr.org]

• Corneal Opacity

  The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism. [checkorphan.org]

  The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. [diseaseinfosearch.org]

  The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. [streetdirectory.com]

  opacities Type II ( Maroteaux type ; BCYM2), autosomal recessive [7], manifestation in childhood, irregular and narrowed intervertebral spaces, marked deformation of the vertebral bodies Type III ( autosomal dominant ; brachyrachia; BCYM3), autosomal [second.wiki]

  opacity Type II ( Maroteaux type ; BCYM2), autosomal recessive, manifestation in childhood, irregular and narrowed intervertebral spaces, marked deformation of the vertebral bodies Type III ( autosomal dominant ; brachyrachia; BCYM3), autosomal dominant [de.zxc.wiki]

• Platyspondyly

  Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. [unboundmedicine.com]

  KEYWORDS: Autosomal recessive brachyolmia; Dumbbell deformity; PAPSS2; Platyspondyly; Skeletal dysplasia [ncbi.nlm.nih.gov]

  From Wikidata Jump to navigation Jump to search human disease DASS platyspondyly with amelogenesis imperfecta dental anomalies and short stature selective tooth agenesis 5 STHAG6 Platyspondyly-amelogenesis imperfecta syndrome Tooth Agenesis, Selective [wikidata.org]

  The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. [scipers.com]

• Short Trunk

  Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism. [checkorphan.org]

  Abstract A brother and a sister affected with brachyolmia (short trunk) are reported. [unboundmedicine.com]

  Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. [ncbi.nlm.nih.gov]

  Brachyolmia is characterized clinically by childhood onset of a short trunk resulting from universal platyspondyly, without significant involvement of epiphyses, metaphyses, or diaphyses of the long bones. [theassr.org]

  Name Brachyolmia Type 1, Hobaek Type Synonyms BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK, SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA Classification unclassified Phenotypes Abnormality of the eye ; Autosomal recessive inheritance ; Back pain ; Disproportionate short-trunk [mousephenotype.org]

• Back Pain

  Name Brachyolmia Type 1, Hobaek Type Synonyms BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK, SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA Classification unclassified Phenotypes Abnormality of the eye ; Autosomal recessive inheritance ; Back pain ; Disproportionate [mousephenotype.org]

• Aggressive Behavior

  X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]

• Short Neck

  short stature ; Flat acetabular roof ; Flattened proximal radial epiphyses ; Intervertebral space narrowing ; Kyphosis ; Osteopenia ; Pectus carinatum ; Sclerotic foci of metaphyses of the elbow ; Scoliosis ; Short femoral neck ; Short iliac bones ; [mousephenotype.org]

  BRACHYOLMIA TYPE 3; BCYM3 Is also known as brachyolmia, autosomal dominant, brachyrachia;brachyolmia type 3 Related symptoms: Autosomal dominant inheritance Short stature Scoliosis Brachydactyly Short neck SOURCES: SCTID GARD ORPHANET OMIM MONDO More [mendelian.co]

Although there is no specific treatment for any of the brachyolmias, our patient is considering decompressive spinal surgery for palliation of his symptoms. [theassr.org]

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]

There is no specific treatment for any of the types of brachyolmia. [streetdirectory.com]

Prospect tome version of CT and MR images: applications for the treatment of endoscopic imaging cheap cephalexin 250 mg amex antibiotics for sinus infection what kind. [sarcomacancer.org]

Ansari SF, Rodgers RB, Fulkerson DH [One stage surgical treatment of congenital scoliosis associated with split cord malformation]. [medicbind.com]

Prognosis varies amongst the subtypes, with spinal stenosis previously reported as a complication of the Hobaek type, felt to be the subtype that our patient most likely exhibits. [theassr.org]

Because of this frequency and the diversity of these conditions, it is essential that the practitioner be able to recognize a fetus, newborn, or child with a skeletal dysplasia so that the diagnosis can be established, the prognosis determined, and a [musculoskeletalkey.com]

As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested. [link.springer.com]

EPIDEMIOLOGY Most skeletal dysplasias are uncommon, and often their exact incidence is unknown. [musculoskeletalkey.com]

Molecular and Systemic Pathophysiology Qualitative abnormal excretion of glycosaminoglycans is described in some patients. As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested. [link.springer.com]

Declarations Authors’ Affiliations (1) Genetic Health Services Victoria and Murdoch Childrens Research Institute, Parkville, Victoria, Australia (2) Department of Clinical Pathophysiology, University of Florence and Meyer Children's Hospital Genetics [ojrd.biomedcentral.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]

The treatment approaches center on occlusion of the bark to prevent embolus organizing and reduce the risk of a division, and may services a combination of endovascular occlusion procedures, such as coils or adhesive and/or arterial bypass. [sarcomacancer.org]

Studies have shown that individuals who have more severe mutations (for example, premature stop codons or a substitution of a glycine) that prevent a pro-alpha 1 or a pro-alpha 2 chain from being formed typically have a milder form of OI (OI type I or [musculoskeletalkey.com]