[…] cases: Epiphyseal dysplasia Irregular epiphyses Microcephaly Frequently present symptoms in 30-79% of the cases: Abnormality of retinal pigmentation Arthralgia Coxa vara Intellectual disability Nystagmus Occasionally present symptoms in 5-29% of the cases [dovemed.com]

A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and microcephaly, without other additional features, suggesting a mild form of LWS. [ncbi.nlm.nih.gov]

Vision and hearing were grossly normal in all children in this family; nystagmus was not present in any relative. [docslide.com.br]

[…] in primary gaze; drug effect if only present in upgaze) * Drug-induced (e.g., anticonvulsants, sedatives, alcohol ) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) Diagnosis [checkorphan.org]

• Disproportionate Short Stature

  The sibs described in this report are similar in several respects to the children in the 2 previously reported families with Lowry-Wood syndrome, including epiphy- seal dysplasia, disproportionate short stature, and micro- cephaly. [docslide.com.br]

• Tinnitus

  […] involuntary eye movements * Short stature * Mental retardation * Square iliac bones * Flattened acetabula Causes * Vestibular –Peripheral (horizontal rotary nystagmus, slow phase toward hypoactive side, latency, fatigability, and accompanied by vertigo, tinnitus [checkorphan.org]

• Platyspondyly

  […] disability Nystagmus Occasionally present symptoms in 5-29% of the cases: Abnormality of nail color Aplasia/hypoplasia of the corpus callosum Astigmatism Brachydactyly Delayed skeletal maturation Dislocated radial head Joint stiffness Patellar dislocation Platyspondyly [dovemed.com]

  […] or toes 0001156 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Dislocated radial head 0003083 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Patellar dislocation Dislocated kneecap 0002999 Platyspondyly [rarediseases.info.nih.gov]

• Extension of Elbows Limited

  Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ] 0001377 Multiple epiphyseal dysplasia 0002654 Multiple joint dislocation 0012095 Nyctalopia Night blindness [rarediseases.info.nih.gov]

• Amnesia

  […] are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium, psychiatric conditions or transient global amnesia [books.google.de]

  Syndrome Tollner Horst Manzke Syndrome Tolosa-Hunt syndrome + Tonoki Syndrome tooth and nail syndrome Townes-Brocks syndrome Townes-Brocks-Branchiootorenal-Like Syndrome toxic encephalopathy + trachoma + Tranebjaerg Svejgaard syndrome transient global amnesia [rgd.mcw.edu]

• Downbeat Nystagmus

  Vestibular suppressant (meclizine, diazepam), vestibular adaptation exercises * Baclofen may be useful in periodic alternating nystagmus and some congenital nystagmus * Clonazepam for downbeat nystagmus [checkorphan.org]

[…] effect if only present in upgaze) * Drug-induced (e.g., anticonvulsants, sedatives, alcohol ) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) Diagnosis The basic diagnostic workup [checkorphan.org]

Applications/comments Biochemical assays Many types available, depending on the condition Some can be performed only on certain tissue types, and only by certain specialized laboratories Because the selection of the type of assay is critical, a biochemical workup [aafp.org]

Our board certified orthopedic surgeons and fellowship trained physitrists provide advanced orthopedic treatment and interventional physiatry care. [dd-clinic.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Full title Lowry-Wood syndrome Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic [retkebolesti.com]

You can help by adding to it. ( December 2016 ) Prognosis [ edit ] There is no cure and no standard course of treatment for Coffin–Lowry syndrome. [en.wikipedia.org]

(Outcomes/Resolutions) The prognosis of Lowry-Wood Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Prognosis - Lowry Wood syndrome Not supplied. [checkorphan.org]

The natural history of LWS is poorly understood and long term prognosis difficult to predict. Orthopedic complications such as joint dislocations, early arthritis and limited joint mobility are likely to occur at a young age. [ashg.org]

Often fatal – if not fatal, prognosis may be similar to that of severe TBI. – Other sxs: dilated pupils, LOC, loss of eye mvmt, respiratory failure. [slideplayer.com]

You can help by adding to it. ( December 2016 ) Prognosis [ edit ] There is no cure and no standard course of treatment for Coffin–Lowry syndrome. [en.wikipedia.org]

[…] eyes): Etiologies include internuclear ophthalmoplegia of multiple sclerosis or cerebral disease * Periodic alternating nystagmus (cervicomedullary junction) * Downbeat (cervicomedullary junction, characteristic of syringobulbia) * Upbeat (brainstem [checkorphan.org]

The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. [ncbi.nih.ncbi.unboundmedicine.com]

Full title Lowry-Wood syndrome Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic [retkebolesti.com]

Synonyms Epiphyseal dysplasia-microcephaly-nystagmus syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

All studies were reported to be case series or epidemiological studies of 1 to 34 year duration. The diagnostic methods employed by the different reports were not described in detail. [ojrd.biomedcentral.com]

The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978; 44 :227–75. 82 Kitsiou Tzeli S, Dellagrammaticas HD, Papas CB, Ladas ID, Bartsocas CS. Unusual ocular findings in an infant with cri-du-chat syndrome. [nature.com]

The causal relation between salicylate and Reyes syndrome suggested by epidemiological studies is supported by pathological findings in children with salicylate-induced death. [docslide.com.br]

A cohort stud of epidemiological associations and outcomes of pregnancies with hypertensive disorders. Hipertens Pregnancy 1998;17:31-41. [ Links ] 33. Modema MAB. Hipertensão arterial na gravidez: aspectos perinatais [MSc dissertation]. [scielo.br]

Pathophysiology Radiographic changes are consistent with multiple epiphyseal dysplasia (abnormal growth of the long tubular bones). The changes are mainly irregular and fragmented epiphyses in the long bones, especially the femoral heads. [accessanesthesiology.mhmedical.com]

McCullough PA: Cardiorenal syndromes: pathophysiology to prevention. Int J Nephrol 2011;2011:762590. [karger.com]

The pathophysiological processes of MR in the human brain are very complex and, have most probably started already in early pregnancy. [latunisiemedicale.com]

This uncertainty exists partly because its pathophysiological mechanism remains obscure and partly because of disagreement about the criteria used to define this syndrome. [scielo.br]

The use of preoperative sedation, when underlying medical condition does not prevent it (eg, airway problems), should be considered to facilitate induction of anesthesia. [accessanesthesiology.mhmedical.com]

[…] present in primary gaze; drug effect if only present in upgaze) * Drug-induced (e.g., anticonvulsants, sedatives, alcohol ) * Monocular visual loss (ipsilateral slow vertical oscillation) * Head nodding, head turn (due to motor or sensory deficits) Prevention [checkorphan.org]

Our orthopedic surgeons and PM&R physicians will discuss the causes, symptoms, diagnosis, treatment, and prevention of your musculoskeletal pain – foot and ankle pain, hand and wrist pain, sore back, back pain, spinal issues, lumbar conditions, hip pain [dd-clinic.com]

[…] injury Consider impact of injury on various levels: – Somatic, emotional/behavior, & cognitive – Subjective & objective Tracking/reassessing sxs over time important Education important – Sxs of concussion – Recovery/return to sport after concussion – Prevention [slideplayer.com]