We present a case of a 2-year-old boy with clinically aggressive Type 1 Gaucher disease in whom MRI showed partial reconstitution of the height of a collapsed lumbar vertebral body after 16 months of enzyme replacement therapy. [ncbi.nlm.nih.gov]

Part A 2003 June 15, 119A (3): 375-80 12784309 We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. [read.qxmd.com]

Acronym CDP-PBHM Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Fishing

  Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. [push-zb.helmholtz-muenchen.de]

• Camping

  Similarly, cervical platyspondyly is seen in spondylocamptodactyly (OMIM 600000), a disorder inherited as an autosomal dominant mutation in which scoliosis and camp-todactyly are features (Lizcano-Gil et al. 1995). [rrnursingschool.biz]

• Respiratory Abnormalities

  abnormality Relative macrocephaly Osteochondroma Irregular epiphyses Coarse facial features Metaphyseal widening Periarticular calcification Abnormal facial shape Mesomelia Absent nasal cartilage Proportionate short stature Absent nasal bridge Vertebral [mendelian.co]

• Trismus

  […] clefting Intervertebral space narrowing Broad phalanx Broad femoral neck Metaphyseal irregularity Mild myopia Sensorineural hearing impairment Hip pain Cleft palate Arthritis Short toe Beaking of vertebral bodies Growth abnormality Hypoplastic ilia Trismus [mendelian.co]

• Ectopia Lentis

  lentis Overfolded helix Abnormality of the urinary system Elbow dislocation Apnea Myalgia Macroglossia Shield chest Anterior beaking of lumbar vertebrae Angiokeratoma corporis diffusum Oligosacchariduria Angiokeratoma Abnormality of temperature regulation [mendelian.co]

  Metaphyseal acroscyphodysplasia MedGen UID: 344453 • Concept ID: C1855243 • Disease or Syndrome Kniest like dysplasia lethal MedGen UID: 383721 • Concept ID: C1855605 • Disease or Syndrome Kniest-like dysplasia with pursed lips and ectopia lentis MedGen [ncbi.nlm.nih.gov]

• Small Hand

  hand Myelopathy Limited elbow extension Decreased body weight Short phalanx of finger Functional respiratory abnormality Relative macrocephaly Osteochondroma Irregular epiphyses Coarse facial features Metaphyseal widening Periarticular calcification [mendelian.co]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears Oxycephaly Midface retrusion Malar flattening Macrocephaly Low-set ears Premature pubarche Lower limb undergrowth Delayed epiphyseal ossification Bowing of the legs Secondary amenorrhea Acne Skeletal dysplasia Delayed skeletal [mendelian.co]

The radiologic workup of mucopolysaccharidosis is a skeletal survey. The types of mucopolysaccharidosis share imaging features. [sjmorads.com]

On chest X-ray obtained as part of apnea, workup showed metaphyseal widening and dysplasia. Baby was re-evaluated, and there was no obvious dysmorphism. [mjdrdypu.org]

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

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]

Treatment - Platyspondyly amelogenesis imperfecta Not supplied. Resources - Platyspondyly amelogenesis imperfecta Not supplied. [checkorphan.org]

Prognosis - Platyspondyly amelogenesis imperfecta Not supplied. Treatment - Platyspondyly amelogenesis imperfecta Not supplied. Resources - Platyspondyly amelogenesis imperfecta Not supplied. [checkorphan.org]

Together with his respiratory failure after birth, we thought his prognosis was worrisome. Even after his prompt recovery from the respiratory problem, the pattern of the FGFR3 mutation suggested a guarded prognosis. [docksci.com]

[…] finger metacarpal flattened femoral epiphyses; risk of lateral subluxation and dislocation coxa valga genu valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Prognosis [jssmcradiology.com]

The major clinical importance of this rare disease is similarity to juvenile idiopathic arthritis (JIA), which has a rather different prognosis and treatment. A few cases of SEDT have been published. [synapse.koreamed.org]

[…] popcorn appearance of the growth cartilages, thin bones, deformities of the long bones due to multiple fractures, rib fractures and vertebral fractures Differential Diagnosis Rickets Child abuse Congenital syphilis Treatment Growth hormone Bisphosphonates Prognosis [learningradiology.com]

From Etiology osteogenesis imperfecta type2 ( congenital platyspondyly). thanatophoric dysplasia metatropic dwarfism Morquios disease (develops later childhood) spondyloepiphyseal dysplasia tarda (develops later childhood) Kniests dysplasia (develops [anvita.info]

The following aspects are important for classifying etiology and pathogenesis: age of the child, density and shape of the vertebra, number of affected vertebral index and vertebral disc index. [link.springer.com]

[…] interstitial and granulonodulo alveolar pattern 324 Interstitialreticular pulmonary pattern 326 Disseminated interstitial pneumonitis 327 The miliary pattern of pneumonia 328 Short linear andor wedgeshaped densities 329 Pulmonary edema in infancy and childhood Etiology [books.google.com]

This led us to hypothesize that the etiologic mutation was in COL2A1. WES identified a five-base pair deletion in this gene. [bmcmedgenet.biomedcentral.com]

Epidemiology Morquio syndrome is a rare disease. The exact incidence in India is not known. Incidence estimated at 1:40,000. Clinical presentation Many cases present at 2 years of age and have normal intelligence. [jssmcradiology.com]

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]

Fetal alcohol syndrome: diagnosis, epidemiology, prevention, and treatment. Washington, DC: National Academy Press; 1996. CDC. Fetal alcohol syndrome—Alaska, Arizona, Colorado, and New York, 1995–1997. MMWR Morb Mortal Wkly Rep 2002;51:433–5. [imic.or.jp]

You can help by adding to it. ( July 2017 ) Epidemiology [ edit ] Fibrochondrogenesis is quite rare. [1] A 1996 study from Spain determined a national minimal prevalence for the disorder at 8 cases out of 1,158,067 live births. [11] A United Arab Emirates [en.wikipedia.org]

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.medscape.com]

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]

The pathophysiology of thanatophoric dysplasia is notable. FGFR3 is a part of the tyrosine kinase receptor family. Usually, FGFR3 is a negative regulator of bone growth. [disabled-world.com]

The pathophysiology of Pyle metaphyseal dysplasia is a defect in metaphyseal remodeling which leads to metaphyseal widening of the long tubular bones with associated cortical thinning and osteoporosis. [mjdrdypu.org]

The pathophysiology of the disease is not clearly understood, but electromyography shows nonvariable, continuous high frequency electrical activity ( 10 ). [ajnr.org]

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.medscape.com]

Causes - Platyspondyly amelogenesis imperfecta Other Possible Causes of these Symptoms * Short trunk Prevention - Platyspondyly amelogenesis imperfecta Not supplied. [checkorphan.org]

In patients with Morquio syndrome with spinal cord compression and spinal instability, early posterior fusion is helpful in preventing neurologic deterioration. Suggested Readings Bostrom A, Weinzierl M, Spangenberg P, et al. [sjmorads.com]

Osteopenia and pathological fractures should be prevented by correct treatment of rickets. References 1. Lowe CU, Terrey M, MacLachlan EA (1952). Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation. [ispub.com]

Fetal alcohol syndrome: diagnosis, epidemiology, prevention, and treatment. Washington, DC: National Academy Press; 1996. CDC. Fetal alcohol syndrome—Alaska, Arizona, Colorado, and New York, 1995–1997. MMWR Morb Mortal Wkly Rep 2002;51:433–5. [imic.or.jp]

The longest survival however has been reported to be of 9 years. 11 PREVENTION: Since majority of the cases of TD occur sporadically, parents with only one previously affected fetus the recurrence risk in subsequent pregnancies is low. [jemds.com]