Skip to main content

Table 1 Medical history and clinical features in the proband and his brother

From: Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

  Features Proband (age: 16.7 years) Brother (age: 8 years)
Face craniofacial dysmorphism + -
Cone-rod dystrophy onset age <3 months >3 months
photophobia + +
nystagmus + +
Blindness 7–8 years -
Full-field electroretinography (ERG) + ±
Fundus examination + +
Obesity Obesity + -
Hearing loss onset age 8–9 years -
glue ear (long-standing sticky fluid in the middle ear) - -
Chronic otitis media - -
Sensorineural impairment + -
Diabetes onset age 14 years -
plasma insulin concentration + -
glucose intolerance + -
insulin resistance - -
acanthosis nigricans - -
Coronary artery disease - -
Diabetic peripheral neuropathy - -
Short stature + +
Cardiomyopathy - -
Hyperlipidemia + -
Developmental delay - -
Male pubertal development - -
Urologic disease - -
Renal disease - -
Hepatic disease - -
Gastrointestinal disease - -
Pulmonary involvement - -
Neurologic - -