Inheritance: sporadic, autosomal dominant
Metabolic defect: abnormal lamin A (due to a substitution in the LMNA gene, with GGT for GGC at codon 608 of exon 11)
Clinical findings:
(1) premature aging
(2) premature death (usually in early adolescence)
(3) sclerotic skin with mottling or areas of hyper and hypopigmentation
(4) joint contractures with reduced range of motion
(5) osteoporosis
(6) alopecia
(7) growth impairment
(8) low frequency conduction hearing loss
(9) ogival (peaked) palate
(10) prominent cutaneous vasculature
(11) vascular deterioration with hypertension and adventitial thickening
(12) lipodystrophy with decreased body fat
(13) finger tip tufting
(14) circumoral cyanosis
(15) dental abnormalities (hypodontia, delayed tooth eruption and or double row of teeth)
(16) anklyoglossia
(17) prominent eyes
(18) hyperopic vision
(19) variable corneal dryness
(20) micrognathia
(21) transient ischemic attacks and stroke
Laboratory findings:
(1) prolonged prothrombin time
(2) thrombocytosis
(3) elevated serum phosphorus concentration
Causes of death:
(1) myocardial infarction
(2) stroke
