Kivuva Emma C, Parker Michael J, Cohen Marta C, Wagner Bart E, Sobey Glenda
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Gladstone Road, Exeter Departments of Clinical Genetics Pathology, Sheffield Children's NHS Foundation Trust, Western Bank Electron Microscopy Unit, Department of Histopathology, Northern General Hospital, Sheffield, UK.
Clin Dysmorphol. 2008 Apr;17(2):99-107. doi: 10.1097/MCD.0b013e3282f4a964.
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.
德巴尔西综合征是一种罕见的常染色体隐性综合征，其特征为早老样外貌，伴有独特的面部特征和皮肤松弛。通常还存在眼科、骨科和神经学异常。该综合征于1967年由德巴尔西等人首次描述，自那时起，全球又报告了约27例病例。我们报告一例展示德巴尔西综合征典型临床和组织学特征的病例。一名女婴，其父母为来自巴基斯坦一个多重近亲家庭的表亲，是他们的第二个孩子，出生时即出现生长发育迟缓、皮肤松弛和早老样外貌。她手指细且重叠，拇指内收，巩膜蓝色，角膜混浊，近视。她生长不良，有明显的发育迟缓及异常的手足徐动症。在出生后的第一年，她出现了漏斗胸，面部外观变得更显苍老。据我们所知，此前尚无关于巴基斯坦裔个体患德巴尔西综合征的报道。
