lethal tight skin contracture syndrome; restrictive dermopathy; Baraitser syndrome
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Epidemiology
rare
Genetics
- autosomal recessive (putative)
- associated with defect in LMNA
- associated with defects in ZMPSTE24
Clinical manifestations
- intrauterine growth retardation
- tight & rigid skin with erosions
- prominent superficial vasculature & epidermal hyperkeratosis
- facial features (small mouth, small pinched nose & micrognathia)
- sparse/absent eyelashes & eyebrows
- mineralization defects of the skull,
- thin dysplastic clavicles
- pulmonary hypoplasia
- multiple joint contractures
- early neonatal lethal course
- liveborn children usually die within the first week of life