English Version
Smith HM, Warner L

De Barsy syndrome

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Keywords De Barsy syndrome; ICD 10: Q87.7 OMIM: 614438; Synonyms: De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy, Autosomal recessive cutis laxa Type 3, with 2 gene subdivisions: ARCL3A (caused by a ALDH18A1 mutation) and ARCL3B (caused by a PYCR1 mutation)
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DeBarsy syndrome is a rare clinical syndrome characterised by cutis laxa, ophthalmic opacification, skeletal malformations, as well as mental and growth retardation.

This disease is genetically transmitted in an autosomal recessive fashion. Affected patients often require surgical correction of ophthalmic and orthopaedic abnormalities. This syndrome was first described by A.M. De Barsy in 1967 and less than 100 known cases are documented in the medical literature. Very little has been published on this rare disorder and only a single article has addressed anaesthesia case outcomes and management strategies [4].
The diverse collection of clinical manifestations in De Barsy syndrome includes: intra-uterine growth retardation (IUGR), postnatal growth delay, motor delay, cognitive impairment, hypotonia, athetoid movements, malformations, microcephaly, wormian bones, large fontanelles, facial dysmorphism, cataracts, corneal clouding, thin/wrinkled skin, easy bruising, sparse hair, joint laxity, osteopenia, and inguinal hernias.