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Table 1 Natural history of Myhre syndrome: approximative age of onset of main clinical features

From: Natural history of Myhre syndrome

Age of onset

Infancy

 < 12 months

Toddler

12 months–2 y/o

Early childhood

2–5 y/o

Middle childhood

6–11 y/o

Adolescence

12–18 y/o

Adult

 > 18 y/o

Growth

Intra-uterine growth retardation

Failure to thrive

 

Muscular hypertrophy

Short stature

Overweight

 

Specific facial feature

   

Prognathism

Maxillar hypoplasia

Narrow palpebral fissure

Thin upper lip

  

Specific skeletal feature

 

Extremities abnormalities

 

Cone shaped epiphyses

Thickened calvarium

Enlarged vertebral pedicles

Joints limitations

  

Skin

   

Stiff and thick skin

  

Cardiovascular

Congenital heart defect

 

Pulmonary arterial hypertension

Pericarditis

Vascular stenosis

  

Neurologic

 

Neurodevelopmental delay

Intellectual disability

Behavioral disorder

  

Respiratory

   

Laryngotracheal stenosis

Pleural effusion

  

Gastro-enterology

Esophageal atresia

Digestive stenosis

    

Sensory system

  

Hearing impairment

Refractive disorders

   

Endocrine

   

Precocious puberty

 

Infertility

Diabetes mellitus

Immunity

  

Hypogammaglobulinemia

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