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290 Possible Causes for Cafe-Au-Lait Spots, Scoliosis

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[medical-dictionary.thefreedictionary.com] […] nondystrophic scoliosis.[ncbi.nlm.nih.gov] Neurofibromatosis type I is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin.[flybase.org]

  • Ataxia Telangiectasia

    Early and continued physical therapy has been proven to slow muscle degeneration and minimize contractures and scoliosis (Gatti, R., GeneReviews. 2010; ncbi.nlm.nih.gov/books[preventiongenetics.com] As A-T progresses, there are a number of other conditions that normally accompany it; including diabetes, scoliosis, and kyphosis leading to need for a wheelchair.[disabilitybenefitscenter.org] These patients do, however, have scoliosis and a positive Romberg's sign.[forgottendiseases.org]

  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[rarediseases.info.nih.gov] Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.[ncbi.nlm.nih.gov] […] junction bony abnormalities (occipito-C1 condyle subluxation and posterior C2-C3 arches fusion), Chiari I malformation, spinal cord syrinx, low-lying conus medullaris, and scoliosis[ncbi.nlm.nih.gov]

  • McCune-Albright Syndrome

    McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[ncbi.nlm.nih.gov] PURPOSE: Scoliosis can occur secondary to McCune-Albright syndrome (MAS); it can be progressive and sometimes requires surgical treatment.[ncbi.nlm.nih.gov] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. [email protected] Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[ncbi.nlm.nih.gov]

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] […] manifestations were short stature (25 patients), limb-length discrepancy (23 patients), clinodactyly (19 patients) metacarpal bone and phalangeal abnormalities (13 patients), scoliosis[ncbi.nlm.nih.gov] This patient presented with non-painful scoliosis. MRI demonstrated a conus medullaris at the superior aspect of the L3 vertebral body.[ncbi.nlm.nih.gov]

  • Neurofibroma

    Some of the characteristic findings are: Type I • Skin findings: Freckles (cafe-au-lait spots) on the skin.[aapos.org] Back braces can be used to provide stability and support for people with scoliosis. All material copyright MediResource Inc. 1996 – 2019. Terms and conditions of use .[medbroadcast.com] Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[symptoma.com]

  • Polyostotic Fibrous Dysplasia

    When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2[icd9data.com] Radiographic measurements of scoliosis, the femoral neck-shaft angle, and limb deformities were then performed.[ncbi.nlm.nih.gov] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[radiopaedia.org]

  • Neurofibromatosis-Noonan Syndrome

    Multiple pigmented spots of size 1 to 5 mm were noticed all over the body and cafe-au-lait spots ranging from 1 to 4 cm were also present.[jpgmonline.com] She had scoliosis in her thoracic vertebrae and a short webbed neck. Her face was triangular with a prominent forehead and a small chin (Fig. 1a).[medicaljournals.se] This paper deals primarily with the surgical treatment of scoliosis ... Scoliosis occurs in approx. 2% of women and less than 1/2% of men.[ibis-birthdefects.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] Patients often develop far-sightedness, scoliosis, unusual pigmentation, truncal obesity, and type 2 diabetes with time and their life expectancy is lowered due to a high[cags.org.ae] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[littlepeopleuk.org]

  • Prata-Libéral-Gonçalves Syndrome

    […] valves agenesis Pulmonary veins stenosis Pulmonary veno-occlusive disease Pulmonary venous return anomaly Pulmonaryatresia intact ventricular septum Pulmonic stenosis with cafe-au-lait[bioreference.net] Resources - Acrodysplasia scoliosis[checkorphan.org] spots Pun-Pur Punctate acrokeratoderma freckle like pigmentation Punctate inner choroidopathy Pupaphobia Pure red cell aplasia Puretic syndrome Purine nucleoside phosphorylase[academickids.com]

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