Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T
Institute of Human Genetics, RWTH Aachen University, Pauwelsstr. 30, Aachen, 52074, Germany.
Am J Med Genet A. 2015 Jan;167A(1):151-5. doi: 10.1002/ajmg.a.36825. Epub 2014 Oct 22.
Clinical overlap makes the diagnosis of overgrowth syndromes challenging. Clinical overlap exists between Simpson-Golabi-Behmel syndrome (SGBS) and Beckwith-Wiedemann syndrome (BWS) which share pre- and postnatal overgrowth, macroglossia, umbilical hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features. Based on the clinical history of a patient, who was diagnosed with BWS shortly after birth and reassessed and rediagnosed with SGBS at age 21 years, particular attention should be paid to developing facial dysmorphia. In addition, we delineate further clinical findings that may allow differentiation between both conditions.
临床重叠使得过度生长综合征的诊断具有挑战性。辛普森-戈拉比-贝梅尔综合征（SGBS）和贝克威思-维德曼综合征（BWS）之间存在临床重叠，二者均具有出生前和出生后的过度生长、巨舌、脐疝、器官肿大、耳垂皱折以及胚胎性肿瘤的发生等特征性表现。基于一名患者的临床病史，该患者出生后不久被诊断为BWS，21岁时经过重新评估和诊断为SGBS，应特别关注面部畸形的发展。此外，我们还描述了可能有助于区分这两种疾病的进一步临床发现。
