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Marfanoid
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Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 times the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.

Signs and symptoms

[edit]

Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include crowding of teeth and long or flat feet, often with hammer toes.[citation needed]

Associated conditions

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Marfanoid habitus is a constellation of symptoms which are generally associated with other syndromes such as Ehlers-Danlos syndrome (including often being seen in the Hypermobile type), Perrault syndrome and Stickler syndrome. Associated conditions include:

Diagnosis

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Medical diagnostic criteria to differentiate Marfanoid habitus from Marfan syndrome:[citation needed]

Marfanoid habitus Marfan syndrome
Arm span to height ratio >1.03 >1.05
Scoliosis >5° >20°

References

[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia

Marfanoid

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from Grokipedia
Marfanoid habitus, also referred to as marfanoid, denotes a physical resembling the skeletal manifestations of , characterized by tall and slender stature, dolichostenomelia (elongated limbs), an arm span-to-height ratio exceeding 1.05, and an elongated face, yet without meeting the full diagnostic criteria for itself. Key features include —evidenced by positive wrist (thumb and fifth finger overlapping when encircling the ) and thumb ( extending beyond the ulnar border of the hand when clenched) signs—a , or carinatum, , reduced upper-to-lower segment ratio (less than 0.85), and increased foot or hand length relative to height. This habitus lacks the systemic involvement, such as aortic root dilatation or , that defines . In medical contexts, marfanoid habitus serves as a clinical descriptor rather than a specific , appearing in diverse genetic conditions including , , and Lujan-Fryns syndrome, as well as in some cases of Ehlers-Danlos syndrome variants like marfanoid hypermobility syndrome, which combines joint hypermobility and skin laxity with marfan-like skeletal traits but without cardiovascular anomalies. It is assessed through during growth phases, often emerging in late childhood or , and prompts targeted screening to rule out underlying disorders. Distinguishing it from is essential, as the latter—an autosomal dominant condition caused by FBN1 gene mutations—carries risks of life-threatening complications like , necessitating and echocardiographic monitoring per the revised Ghent nosology criteria. While marfanoid features alone have low predictive value for , their presence, especially with "red flag" signs like or severe (≥3 diopters), warrants multidisciplinary evaluation to guide appropriate management and prevent misdiagnosis.

Definition and Characteristics

Definition

Marfanoid habitus, also referred to as marfanoid, describes a phenotypic constellation of physical signs that resemble those seen in , such as tall stature, long limbs, and , but without necessitating fulfillment of the complete diagnostic criteria for itself. This descriptor is commonly applied to individuals exhibiting a slender, elongated body build that mimics the skeletal features of , yet it lacks the high specificity for confirming the disorder and is instead used to characterize similar appearances in various other conditions. The term marfanoid emerged in the mid-20th century amid efforts to classify hereditary disorders, drawing from the foundational observations of French pediatrician Antoine Marfan, who in 1896 first described —unusually long and slender fingers—in a young patient, laying the groundwork for recognizing such skeletal dysmorphisms. This etymological link underscores marfanoid as an adjective denoting resemblance to the eponymous syndrome, formalized as physicians like Victor McKusick delineated its features in the 1950s. Quantitative assessments help delineate marfanoid habitus, including an arm span-to-height exceeding 1.05 per the revised Ghent criteria and a reduced upper-to-lower body segment below 0.85 in individuals of European descent (or 0.78 in those of African descent). These metrics provide objective thresholds for identifying the elongated limb proportions central to the , though they must be interpreted in clinical context.

Physical Features

The marfanoid encompasses a distinctive set of skeletal and body proportion abnormalities that contribute to a tall, slender build. Individuals typically exhibit tall stature, often surpassing the 95th for age, , and . Dolichostenomelia, characterized by disproportionately long and slender limbs relative to the trunk length, is a core feature that accentuates the elongated appearance. , or abnormally long fingers and toes, is commonly demonstrated by positive and signs; the sign is affirmed when the and fifth finger overlap upon encircling the contralateral , and the sign when the protrudes beyond the ulnar border of the hand with fingers overlapped across the palm. Quantitative body proportion metrics further delineate the . An increased arm span-to-height , typically greater than 1.05, reflects the extended reach relative to overall height. A reduced upper segment-to-lower segment , generally less than 0.85, indicates shorter trunk length compared to leg length; this is derived by dividing the measurement from the to the floor (lower segment) by the distance from the top of the head to the (upper segment). Several associated minor skeletal features are frequently observed. These include pectus deformities, such as (protruding sternum) or (sunken sternum), which arise from abnormal chest wall development. , manifesting as lateral spinal curvature, joint hypermobility allowing excessive range of motion, and a are also prevalent. Facial characteristics contribute to the overall dysmorphic appearance. , or elongated skull shape, malar with underdeveloped cheekbones, and retrognathia featuring a receding jawline, are typical findings. These traits collectively define the marfanoid habitus, which shares phenotypic similarities with but appears across multiple genetic disorders.

Associated Conditions

Primary Genetic Syndromes

is the archetypal primary genetic syndrome featuring marfanoid habitus as a cardinal manifestation. It is inherited in an autosomal dominant manner due to heterozygous pathogenic variants in the FBN1 gene on chromosome 15q21.1, which encodes fibrillin-1, a key component of extracellular microfibrils. The revised Ghent criteria for diagnosis require the presence of marfanoid habitus—characterized by tall stature, long limbs, and —combined with systemic features such as , aortic root dilatation, or a systemic score of at least 7 points from skeletal, ocular, cardiovascular, pulmonary, and dermal manifestations, often confirmed by identification of a FBN1 variant. The incidence of is estimated at 1 in 3,000 to 5,000 individuals worldwide, with no significant sex or ethnic predisposition. Lujan-Fryns syndrome, also known as X-linked intellectual with marfanoid habitus, represents another primary syndrome where marfanoid features are defining. It follows , primarily affecting males, caused by hemizygous pathogenic variants in the MED12 gene on Xq13, which encodes a mediator complex subunit involved in . Key clinical elements include marfanoid habitus with tall stature and long, slender extremities, alongside mild to moderate , behavioral disturbances such as and hyperactivity, and macro-orchidism post-puberty. Distinctive facial features may include a , , and a . The syndrome is extremely rare, with prevalence unknown but fewer than 100 cases reported globally. Marfanoid-progeroid-lipodystrophy syndrome (MPL syndrome) is a rare connective tissue disorder distinguished by marfanoid habitus integrated with progeroid and lipodystrophic elements. It arises from autosomal dominant inheritance via specific heterozygous mutations in the 3' end of the FBN1 gene, leading to truncated fibrillin-1 proteins that disrupt microfibril assembly and elicit premature aging phenotypes. Affected individuals exhibit marfanoid features like dolichostenomelia and arachnodactyly, coupled with congenital generalized lipodystrophy (except in gluteal and breast regions), neonatal progeroid appearance including wrinkled skin and prominent scalp veins, and accelerated linear growth discordant with low weight. Additional traits include joint laxity, myopia, and cardiac anomalies akin to Marfan syndrome, without typical metabolic derangements of lipodystrophies. Prevalence is exceedingly low, with fewer than 20 cases documented, underscoring its rarity. Shprintzen-Goldberg syndrome constitutes a primary disorder with prominent marfanoid habitus. Inherited in an autosomal dominant pattern, it results from heterozygous pathogenic variants in the gene on 1p36.32, encoding a transcriptional regulator that modulates TGF-β signaling. Diagnostic hallmarks encompass marfanoid body habitus with tall stature, , and pectus deformities, alongside leading to turribrachycephaly or , ranging from mild to moderate, and potential cardiac defects such as . Facial dysmorphisms include , downslanting palpebral fissures, and a prominent forehead. The condition is very rare, with a of less than 1 in 1,000,000, and approximately 70 cases reported in the literature. Congenital contractural arachnodactyly (CCA), also known as Beals syndrome, is an autosomal dominant disorder caused by heterozygous pathogenic variants in the FBN2 gene on 5q23, which encodes fibrillin-2. It is characterized by marfanoid habitus including tall stature, long limbs, , and pectus deformities, but distinguished by congenital contractures (particularly of the large joints like knees and elbows), "crumpled" ear appearance, and . Unlike , cardiovascular involvement is rare or mild, and is absent. The condition is very rare, with prevalence estimated at less than 1 in 1,000,000.

Secondary or Overlapping Disorders

, an autosomal recessive disorder caused by mutations in the gene, presents with marfanoid habitus characterized by tall stature, long limbs, and , alongside and a high risk of due to elevated levels. This metabolic condition arises from deficient cystathionine beta-synthase activity, leading to abnormalities that mimic skeletal features of primary fibrillinopathies, but it is distinguished by its biochemical basis and potential for intellectual impairment in untreated cases. Loeys-Dietz syndrome, inherited in an autosomal dominant manner from mutations in TGFBR1 or TGFBR2, features marfanoid habitus with tall stature and long extremities, often accompanied by arterial , , and widespread aneurysms beyond the . These transforming growth factor-beta receptor defects disrupt vascular integrity and craniofacial development, resulting in overlapping skeletal traits like those in , yet with more aggressive vascular involvement and typical absence of . The phenotype, an autosomal dominant condition linked to specific FBN1 gene variants, manifests as a mild marfanoid habitus including elongated limbs and pectus deformities, combined with , , and skin striae, but notably without aortic root dilation. This entity represents a milder spectrum of fibrillin-1 dysfunction, emphasizing non-cardiovascular involvement and serving as a differential consideration when aortic features are absent. Vascular-type Ehlers-Danlos syndrome, caused by autosomal dominant mutations in COL3A1 affecting type III collagen, can include marfanoid habitus with slender build and joint hypermobility, alongside hyperelastic skin, easy bruising, and arterial fragility predisposing to ruptures. The disorder's emphasis on collagen deficiency leads to thin, translucent skin and tissue fragility, contrasting with fibrillin-related syndromes through its prominent risk of spontaneous vascular events. Stickler syndrome encompasses a group of autosomal dominant (primarily types 1-3 due to variants in COL2A1, COL11A1, or COL11A2 genes) disorders characterized by vitreoretinal degeneration, , midfacial , and joint hypermobility or spondyloepiphyseal . Some individuals, particularly in type 1, exhibit marfanoid habitus with tall stature, , and pectus deformities, though is more common in others. Ocular features include high and risk, without the aortic involvement of . Prevalence is estimated at 1 in 7,500 to 9,000 individuals. Marfanoid hypermobility syndrome is a distinct heritable connective tissue disorder combining marfanoid skeletal features such as tall stature, arachnodactyly, and pectus deformities with generalized joint hypermobility and mild skin laxity, akin to Ehlers-Danlos syndrome (EDS) but without significant vascular or ocular complications. It is inherited in an autosomal dominant manner, though the specific gene is often unidentified. This condition lacks the cardiovascular anomalies of Marfan syndrome and the severe fragility of vascular EDS, serving as a milder overlapping entity. It is rare, with limited cases reported in the literature. In these secondary or overlapping disorders, marfanoid habitus emerges as a non-defining trait amid diverse etiologies, with most lacking the seen in conditions like untreated , thereby aiding differentiation from primary syndromes centered on fibrillinopathies.

Genetic Mechanisms

Mutations in the fibrillin-1 gene (FBN1), located on chromosome 15q21.1, are the primary cause of and underlie the marfanoid habitus in many related disorders. These mutations typically result in or dominant-negative effects, leading to defective assembly of elastic microfibrils in the . This disruption sequesters and dysregulates transforming growth factor-beta (TGF-β), increasing its bioavailability and signaling, which contributes to the observed in affected individuals. Seminal studies, including mouse models with Fbn1 mutations, have demonstrated that excessive TGF-β signaling drives formation and other features of the marfanoid phenotype. Marfanoid habitus arises from disorders with diverse inheritance patterns. exemplifies autosomal dominant inheritance through FBN1 , where a single mutated suffices to produce the . In contrast, Lujan-Fryns syndrome follows an X-linked pattern due to mutations in the MED12 gene on Xq13, which encodes a mediator of transcription and affects primarily males. , another cause of marfanoid features, is inherited in an autosomal recessive manner via biallelic mutations in the CBS gene on 21q22.3, leading to cystathionine beta-synthase deficiency and accumulation. The expression of marfanoid traits exhibits variable expressivity and age-dependent , even within families sharing the same FBN1 mutation, influenced by genetic modifiers and environmental factors. De novo FBN1 mutations account for approximately 25% of cases, occurring spontaneously in individuals without affected parents. Genetic testing for marfanoid disorders primarily involves targeted next-generation sequencing of FBN1 and associated genes, with deletion/duplication analysis to detect copy number variants. In classic , FBN1 sequencing yields a diagnostic rate exceeding 90% in individuals meeting revised criteria. For other syndromic marfanoid conditions, diagnostic yields vary by and panel scope.

Connective Tissue Abnormalities

The pathophysiology of abnormalities in marfanoid habitus varies by underlying condition. In fibrillinopathies such as , genetic defects disrupt the through abnormal incorporation of fibrillin-1 into , which compromises the structural integrity and elasticity of in bones, ligaments, and blood vessels. This malfunction arises from mutations in the FBN1 gene, leading to defective assembly that fails to provide adequate support for tissue resilience. As a result, affected individuals exhibit reduced tissue compliance, contributing to the characteristic skeletal and vascular features of the condition. A key consequence of this matrix disruption is the overactivation of the transforming growth factor-β (TGF-β) signaling pathway, as sequestered TGF-β is abnormally released from fragmented microfibrils. This dysregulated signaling promotes excessive longitudinal growth in long bones by altering proliferation and differentiation during development, while simultaneously weakening aortic walls through increased activity and smooth muscle cell . In vascular tissues, the heightened TGF-β activity exacerbates degradation, heightening the risk of aneurysmal dilation. In , accumulation of and its metabolites disrupts by forming adducts with proteins, interfering with cross-linking and integrity, which contributes to skeletal overgrowth and lens dislocation. For Lujan-Fryns syndrome, MED12 mutations affect transcriptional regulation via the Mediator complex, influencing developmental pathways that lead to marfanoid skeletal features, though the precise mechanisms remain incompletely understood. Histological examinations of affected tissues in fibrillinopathies reveal characteristic abnormalities, including fragmentation and disorganization of elastic fibers in the skin, , and other elastic structures, often accompanied by excessive deposition in certain variants. These changes manifest as irregular, beaded microfibrils under electron and cystic medial in aortic samples, reflecting impaired and tissue remodeling. Systemically, in conditions involving dysregulated growth signaling, these alterations lead to elongated long bones via impaired , where altered signaling delays hypertrophic maturation and prolongs the growth phase. laxity arises from ligamentous weakness due to diminished microfibril-mediated tensile strength or analogous disruptions, allowing hypermobility and instability in synovial joints.

Diagnosis

Clinical Evaluation

The clinical evaluation of marfanoid habitus begins with a thorough to identify characteristic skeletal and features. Key measurements include , (distance between fingertips with arms outstretched), and body segment , such as the upper segment (head to pubic bone) to lower segment (pubic bone to floor) and to , where values exceeding 1.05 may indicate involvement. For instance, an -to- greater than 1.05 is a recognized metric in assessing elongated limbs. These assessments contribute to the systemic score outlined in the revised Ghent nosology, a standardized scoring system for disorders, where a score of ≥7 points from features like (2 points if both wrist and thumb signs present, 1 point if only one present), pectus deformities (carinatum: 2 points; excavatum or asymmetry: 1 point), , and reduced elbow extension supports the presence of marfanoid features. Imaging modalities play a crucial role in confirming and quantifying abnormalities. is essential to evaluate the aortic root diameter, using Z-scores adjusted for age and body size to detect dilatation (Z ≥ 2 in adults), which, while not exclusive to habitus, aids in contextualizing cardiovascular risk. Skeletal X-rays are employed to assess for ( ≥20°) and pectus deformities, while computed tomography or may further delineate or if indicated by clinical suspicion. Ophthalmologic evaluation via slit-lamp examination is performed to detect , characterized by lens dislocation, often superotemporal in position. Family history assessment involves constructing a detailed pedigree to identify patterns of inheritance, particularly autosomal dominant transmission, where affected first-degree relatives with similar features strengthen the clinical suspicion. This analysis helps determine if the habitus aligns with familial disorders. A multidisciplinary approach ensures comprehensive , integrating input from geneticists for scoring interpretation, cardiologists for echocardiographic assessment, and orthopedists for skeletal evaluations to achieve an accurate systemic score and guide further management. is recommended to discuss risks, benefits, and implications of testing.

Differential Diagnosis

The differential diagnosis of marfanoid habitus involves distinguishing it from other disorders and endocrine conditions that present with tall stature, , and skeletal abnormalities. Key differentiators include specific clinical tests and features that help exclude mimics. For , a positive test in urine detects elevated homocystine levels, which is absent in marfanoid habitus due to fibrillin-1 mutations. Ehlers-Danlos syndrome (EDS), particularly the hypermobile or kyphoscoliotic types, can overlap with marfanoid features but is differentiated by marked skin hyperextensibility and fragility, assessed via simple skin stretch tests showing >1.5 cm extension on the midvolar forearm in adults. shares vitreoretinal degeneration and joint laxity but is distinguished by prominent and midface , often confirmed by and ophthalmic evaluation. Comparative features across related syndromes aid in precise classification, as shown in the table below. is typically present in and but absent in MASS phenotype, which instead features prominent without progressive aortic dilation. Aortic involvement is mild and non-progressive in MASS but severe and widespread in Loeys-Dietz syndrome, often involving arterial tortuosity and aneurysms beyond the root.
FeatureMarfan SyndromeHomocystinuriaMASS PhenotypeLoeys-Dietz Syndrome
Ectopia lentisPresentPresentAbsentRare
Aortic root dilationProgressive, severeAbsent or mildBorderline, non-progressiveSevere, with tortuosity
Skin findingsStriaeNormalNonspecific stretch marksTranslucent, easy bruising
Intellectual involvementAbsentOften presentAbsentAbsent
Non-genetic causes must be considered as red flags when marfanoid features lack a clear familial pattern or systemic involvement. Nutritional tall stature from or early growth acceleration can mimic the habitus without fragility, while endocrine disorders like present with tall stature and eunuchoid proportions but include and small testes as distinguishing signs. Genetic testing panels targeting fibrillin-1 (FBN1) and transforming growth factor-beta (TGF-β) pathway genes (e.g., TGFBR1/2, SMAD3) are essential for resolving diagnostic ambiguities, given overlaps in phenotypes among TGF-β signalopathies like Loeys-Dietz syndrome and . These panels, often using next-generation sequencing, identify causative variants in approximately 60% of cases with marfanoid habitus, with higher yields in those meeting Marfan criteria.

Management and Prognosis

Treatment Strategies

Treatment strategies for marfanoid habitus primarily involve identifying and addressing any underlying genetic or disorder through multidisciplinary evaluation, including and specialist consultations. If no systemic condition is identified, management focuses on symptomatic relief of skeletal features and supportive care. Orthopedic interventions address manifestations such as and chest wall deformities. Bracing may be considered for , though efficacy is limited in conditions with marfanoid features. For symptomatic or carinatum, surgical correction via procedures like the Nuss or Ravitch technique may be indicated to improve cardiopulmonary function, typically performed near skeletal maturity to reduce recurrence risk. Ophthalmologic care addresses refractive errors, such as high , with corrective lenses or contact lenses as the primary approach. Syndrome-specific therapies are applied when an underlying condition is diagnosed. In due to cystathionine beta-synthase deficiency, () supplementation is a cornerstone treatment for responsive cases, effectively lowering levels and mitigating thrombotic and skeletal risks when initiated early. For Lujan-Fryns syndrome, which includes , multidisciplinary support encompassing , behavioral therapy, and speech therapy addresses neurodevelopmental needs, as no curative options exist. In cases where an underlying connective tissue disorder like Marfan syndrome or Loeys-Dietz syndrome is confirmed, additional targeted management is required, such as cardiovascular monitoring and interventions tailored to the specific diagnosis (detailed in respective condition guidelines). Lifestyle recommendations include avoiding high-impact and contact sports to prevent injury from joint hypermobility or skeletal fragility, while encouraging low-intensity activities like walking or swimming. Regular monitoring of growth and skeletal development is advised during childhood and adolescence. Genetic counseling is recommended for affected individuals and families to discuss inheritance risks and family screening.

Long-Term Outcomes

The long-term prognosis for individuals with marfanoid habitus depends on whether an underlying systemic disorder is present. For isolated marfanoid habitus without associated conditions, and quality of life are typically normal, with management focused on preventing complications from skeletal features like or pectus deformities. When marfanoid features occur in the context of associated genetic syndromes, outcomes vary by etiology. For example, in , has improved to over 70 years with modern management as of 2023. In Loeys-Dietz syndrome, which can present with marfanoid habitus and more aggressive vascular involvement, prognosis has also advanced, with many individuals surviving beyond 50 years due to early surgical and pharmacological interventions as of 2025. Complication rates, particularly musculoskeletal, influence outcomes. Scoliosis affects a significant proportion in conditions with marfanoid features and may require surgical correction to avoid respiratory issues. Quality-of-life considerations include psychological support for body image concerns related to tall stature and skeletal differences, which can contribute to anxiety or depression. In X-linked conditions like Lujan-Fryns syndrome, addresses fertility and recurrence risks, with affected males typically not reproducing. Advances in genetic and personalized therapies continue to improve outcomes across associated conditions, emphasizing the value of early multidisciplinary care.

References

  1. https://www.sciencedirect.com/topics/medicine-and-dentistry/marfanoid
  2. https://pmc.ncbi.nlm.nih.gov/articles/PMC8775541/
  3. https://pmc.ncbi.nlm.nih.gov/articles/PMC5029249/
  4. https://www.marfantrust.org/articles/friday-fact-marfanoid-habitus
  5. https://www.merriam-webster.com/medical/marfanoid
  6. https://www.sciencedirect.com/science/article/pii/B9780123838346001609
  7. https://pubmed.ncbi.nlm.nih.gov/9798380/
  8. https://www.marfan.org/wp-content/uploads/2021/01/A_Guide_To_Marfan_Syndrome_and_Related_Disorders.pdf
  9. https://www.marfantrust.org/articles/antoine-marfan
  10. https://marfan.org/dx/score/
  11. https://emedicine.medscape.com/article/1258926-clinical
  12. https://ajronline.org/doi/pdf/10.2214/ajr.155.1.2112876
  13. https://www.ncbi.nlm.nih.gov/books/NBK1335/
  14. https://www.ncbi.nlm.nih.gov/books/NBK537339/
  15. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782
  16. https://pmc.ncbi.nlm.nih.gov/articles/PMC2981714/
  17. https://pmc.ncbi.nlm.nih.gov/articles/PMC4476478/
  18. https://www.ncbi.nlm.nih.gov/books/NBK1676/
  19. https://www.orpha.net/en/disease/detail/776
  20. https://omim.org/entry/309520
  21. https://omim.org/entry/616914
  22. https://pmc.ncbi.nlm.nih.gov/articles/PMC4989216/
  23. https://www.orpha.net/en/disease/detail/300382
  24. https://www.ncbi.nlm.nih.gov/books/NBK1277/
  25. https://omim.org/entry/182212
  26. https://www.orpha.net/en/disease/detail/2462
  27. https://www.ncbi.nlm.nih.gov/books/NBK1386/
  28. https://www.ncbi.nlm.nih.gov/books/NBK1524/
  29. https://pmc.ncbi.nlm.nih.gov/articles/PMC5203861/
  30. https://www.ncbi.nlm.nih.gov/books/NBK1133/
  31. https://pmc.ncbi.nlm.nih.gov/articles/PMC3190257/
  32. https://pmc.ncbi.nlm.nih.gov/articles/PMC3593235/
  33. https://www.ncbi.nlm.nih.gov/books/NBK549814/
  34. https://pmc.ncbi.nlm.nih.gov/articles/PMC3542934/
  35. https://pmc.ncbi.nlm.nih.gov/articles/PMC9222743/
  36. https://www.nature.com/articles/jhg20071
  37. https://www.ahajournals.org/doi/10.1161/circulationaha.109.883629
  38. https://pmc.ncbi.nlm.nih.gov/articles/PMC11220501/
  39. https://pmc.ncbi.nlm.nih.gov/articles/PMC5797509/
  40. https://www.mdpi.com/2075-4418/13/13/2284
  41. https://www.frontiersin.org/journals/molecular-biosciences/articles/10.3389/fmolb.2023.1113061/full
  42. https://www.nature.com/articles/s41598-017-01620-8
  43. https://pubmed.ncbi.nlm.nih.gov/10721908/
  44. https://www.nejm.org/doi/full/10.1056/NEJM199007193230303
  45. https://pmc.ncbi.nlm.nih.gov/articles/PMC5666637/
  46. https://www.marfan.org/dx/score/
  47. https://emedicine.medscape.com/article/1258926-workup
  48. https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787
  49. https://pubmed.ncbi.nlm.nih.gov/20591885/
  50. https://pubmed.ncbi.nlm.nih.gov/18494225/
  51. https://my.clevelandclinic.org/-/scassets/files/org/heart/patient-education/hvti-files/marfan-syndrome.pdf
  52. https://medlineplus.gov/ency/article/001199.htm
  53. https://www.aafp.org/pubs/afp/issues/2021/0415/p481.html
  54. https://pmc.ncbi.nlm.nih.gov/articles/PMC8536070/
  55. https://pubmed.ncbi.nlm.nih.gov/30122589/
  56. https://www.nature.com/articles/gim201148
  57. https://emedicine.medscape.com/article/946315-overview
  58. https://pmc.ncbi.nlm.nih.gov/articles/PMC7558671/
  59. https://orthoinfo.aaos.org/en/diseases--conditions/marfan-syndrome/
  60. https://marfan.org/wp-content/uploads/2021/01/Eyes_in_Marfan_Syndrome.pdf
  61. http://article.sapub.org/10.5923.j.cp.20140302.01.html
  62. https://advances.massgeneral.org/cardiovascular/article.aspx?id=1116
  63. https://www.frontiersin.org/journals/psychology/articles/10.3389/fpsyg.2023.1019863/full
  64. https://marfan.org/wp-content/uploads/2021/01/bones_and_joints_in_marfan.pdf
  65. https://pubmed.ncbi.nlm.nih.gov/32260184/
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