Inspired by a patient
Kivuva EC, Parker MJ, Cohen MC, Wagner BE, Sobey G. De Barsy syndrome: a review of the phenotype. Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964. PMID: 18388779.
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopaedic and neurological abnormalities are also typically present. The syndrome was first described by de Barsy et al. in 1967 and since that time approximately 27 further cases have been reported worldwide. We present a case that demonstrates the typical clinical and histological features of de Barsy syndrome. A female infant, the second child of first-cousin parents from a multiply consanguineous family of Pakistani origin, presented at birth with growth retardation, cutis laxa and a progeria-like appearance. She had thin, overlapping fingers and adducted thumbs, blue sclerae, cloudy corneas and myopia. She has failed to thrive and has marked developmental delay and abnormal athetoid movements. During the first year of life she developed pectus excavatum and her facial appearance became more aged. To our knowledge there are no previous reports of de Barsy syndrome in individuals of Pakistani origin.
Arazi M, Kapicioğlu MI, Mutlu M. The de Barsy syndrome. Turk J Pediatr. 2001 Jan-Mar;43(1):79-84. PMID: 11297166.
We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with eight-year follow-up beginning from birth are described and compared with previously reported cases. The main aim of this paper was to describe the diagnostic and therapeutic difficulties of this rarely encountered syndrome.
Kunze J, Majewski F, Montgomery P, Hockey A, Karkut I, Riebel T. De Barsy syndrome--an autosomal recessive, progeroid syndrome. Eur J Pediatr. 1985 Nov;144(4):348-54. doi: 10.1007/BF00441776. PMID: 4076251.
We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal clouding or cataracts. The syndrome probably has autosomal recessive inheritance.