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Homocystinuria
habitus, osteoporosis, attention deficit and hyperactivity disorder.[ncbi.nlm.nih.gov]
Gene CBS (AR) Diagnostic Test Plasma Total Homocysteine, Urine Organic Acids Neurological Psychosis/depression, behavioral disturbances, stroke, dystonia Non-Neurological Marfanoid[treatable-id.org]
This will cause the complications of thromboembolism etc only (not those marfanoid habitus etc stuff).[forums.studentdoctor.net]
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Multiple Endocrine Neoplasia Type 2B
habitus is reported.[ncbi.nlm.nih.gov]
The characteristic phenotype including mucosal neuromas, musculoskeletal abnormalities and a marfanoid habitus led us to suspect this diagnosis, which was confirmed by the[ncbi.nlm.nih.gov]
MEN 2B is characterized by the combined occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and Marfanoid habitus.[ncbi.nlm.nih.gov]
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Marfan Syndrome
On physical examination he presented with marfanoid habitus. Pneumothorax was managed conservatively with resolution.[ncbi.nlm.nih.gov]
The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of[ncbi.nlm.nih.gov]
habitus.[clinicalcorrelations.org]
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Ehlers Danlos Syndrome
habitus.[bestpractice.bmj.com]
Marfanoid habitus This may be present in association with EDS (usually incomplete).[online.epocrates.com]
habitus (i.e. tall, slim physique, span:height ratio 1.3, upper:lower segment ratio Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring Eye signs:[medical-dictionary.thefreedictionary.com]
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Marfanoid Habitus with Situs Inversus
Fryns Syndrome MARFAN LIPODYSTROPHY SYNDROME Marfan Syndrome Type 2 Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Habitus with Situs Inversus Marfanoid[rgd.mcw.edu]
Abstract Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to defective left-right axis determination.[ncbi.nlm.nih.gov]
[…] to further confirm the marfanoid habitus / marfan syndrome[medicotips.com]
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PDE4D Haploinsufficiency Syndrome
habitus Growth Weight: decreased body mass index[malacards.org]
habitus syndrome 4 Cases 672 Pallister-Hall syndrome 100 Cases 140966 Palmoplantar keratoderma, Nagashima type 20 Cases 2202 Palmoplantar keratoderma- deafness syndrome 10[azkurs.org]
habitus X-linked intellectual deficit, Cabezas type X-linked intellectual deficit, Golabi-Ito-Hall type X-linked intellectual deficit, Najm type X-linked intellectual deficit[csbg.cnb.csic.es]
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Ehlers-Danlos Syndrome, Type 6
Other findings may include: marfanoid habitus; microcornea; and radiologically considerable osteopenia.[ehlersdanlos.ca]
Hyperelastic skin in a person with cEDS Translucent skin in Vascular EDS (VEDS) Atrophic scar found in cEDS, clEDS, Dermatosparaxis, and some other types "Marfanoid habitus[me-pedia.org]
A marfanoid habitus is often striking. Thoracic scoliosis is common in the neonate.[ncbi.nlm.nih.gov]
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Autosomal Dominant Spastic Ataxia Type 1
Fryns J-P, Buttiens M: X-linked mental retardation with marfanoid habitus. Am J Med Genet 1987;28:267–274.[karger.com]
Lujan E, Carlin ME, Lubs HA: A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 1984;17:311–322.[karger.com]
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Ehlers-Danlos Syndrome, Type 8
Marfan patients generally have a body type called a Marfanoid body habitus.[forgottendiseases.org]
Marfanoid habitus isn't a sign of EDS. Marfanoid habitus is a minor Brighton criterion. If Marfanoid habitus is so uncommon, why is it included in the criteria?[murraymeetze.com]
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, Marfanoid habitus, and distinctive facies. J Am Acad Dermatol . 2006;55:S41-S45. 8.[dimensionsofdentalhygiene.com]
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Metabolic Disorder of Amino Acids
habitus, dislocation of lens Venous and arterial thrombosis and cerebral infarcts[neuropathology-web.org]
Marfanoid habitus in Homocystinuria), unusual odour (e.g. musty in Phenylketonuria (PKU)), ocular involvement (e.g. cherry red spots in Tay Sachs disease), cataracts (e.g.[rch.org.au]
Neonatal encephalopathy, psychomotor retardation Brain swelling, spongy myelinopathy Homocystinuria (cystathionine beta synthase deficiency) Elevated homocysteine Thrombosis, Marfanoid[neuropathology-web.org]