Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.
Am J Med Genet A. 2013 Oct;161A(10):2401-6. doi: 10.1002/ajmg.a.36124. Epub 2013 Aug 15.
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. © 2013 Wiley Periodicals, Inc.
我们在此报告一个葡萄牙家系，其中 3 名姐妹共患中度智力障碍、特殊的面型（短睑裂；宽鼻尖；薄上唇和下唇红；宽而尖的下巴）和手部异常（1 例左手第 3、5 掌骨短；另 1 例第 3、4 指蹼状融合）。其中 1 名姐妹还伴有小头畸形和身材矮小，另外 2 名姐妹肥胖。体型肥胖和具有一定相似的面型特征也存在于健康的母亲中。尽管存在与几种已知综合征（Albright 骨营养不良症；Filippi 综合征；Rubinstein-Taybi 综合征；2q37 微缺失）的重叠，但我们认为这种情况以前并未报道过，极有可能表现为常染色体隐性遗传模式。© 2013 Wiley Periodicals, Inc.
