Giuffrè M, De Sanctis L
UO di Neonatologia e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo.
Minerva Pediatr. 2010 Jun;62(3 Suppl 1):199-201.
Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these conditions, even if partially known so far, can help in explaining the clinical features and prognosis. The diagnostic course, the genetic investigations and the follow-up of a LGA patient will be presented during the seminar. A wide clinical spectrum from esophageal atresia to VACTERL association. Oesophageal atresia (OA) occurs approximately in 1 in 3000 live births. It can be clinically divided into isolated and syndromic, when associated with other features. The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. Survival is directly related to birth weight and to the presence of a major cardiac defect. The VACTERL association refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The overall phenotype of a series of newborn patients we observed may vary widely, reflecting the aetiologic heterogeneity of this group of conditions. Therefore, possible additional defects must be accurately investigated in all newborns with OA.
实用临床方法。由于异常胎儿代谢（即母亲妊娠期糖尿病）或过度生长综合征，多种医学状况中可能出现过度生长。在后者这类疾病中，大于胎龄儿（LGA）新生儿需要进行复杂的鉴别诊断，涵盖多种综合征，如贝克威思-维德曼综合征、索托斯综合征、韦弗综合征、辛普森-戈拉比-贝梅尔综合征、佩尔曼综合征和班纳扬-莱利-鲁瓦尔卡瓦综合征。局部或全身过度生长、其他畸形、腹部器官异常以及良性和恶性肿瘤是诊断和监测所有这些疾病时要检查的常见问题。这些病症的分子基础，即使目前只是部分已知，也有助于解释临床特征和预后。研讨会上将介绍LGA患者的诊断过程、基因检测及随访情况。从食管闭锁到VACTERL综合征的广泛临床谱。食管闭锁（OA）约在每3000例活产中发生1例。临床上可分为孤立型和综合征型（当与其他特征相关时）。病因大多不明，可能是多因素的，然而，在动物实验中已发现各种线索，特别是音猬因子（Shh）基因表达缺陷。绝大多数病例为散发性，同胞复发风险为1%。存活率与出生体重及是否存在主要心脏缺陷直接相关。VACTERL综合征指脊柱骨异常（V）、胃肠道闭锁（A）、先天性心脏病变（C）、气管食管缺陷（TE）、肾脏和远端尿路异常（R）以及肢体病变（L）。我们观察的一系列新生儿患者的总体表型可能差异很大，反映了这组病症的病因异质性。因此，所有OA新生儿都必须准确调查可能存在的其他缺陷。
