Extending the overlap of three congenital overgrowth syndromes
Extending the overlap of three congenital overgrowth syndromes
复制标题
扩大三种先天性过度生长综合征的重叠范围
作者：
B. Coppin;I. Moore;E. Hatchwell
我们提出的情况下，男婴，早产（妊娠33周）与巨大儿，不成比例的大头畸形，面部畸形，短阴茎和一个小的脐缺陷。他有一个大的ASD，从出生就因呼吸窘迫综合征而接受通气。他在出生12小时时死亡，尽管新生儿ITU护理。尸检显示肾脏高度分叶状，伴有芽基结节和髓质错构瘤样改变灶。还观察到胰岛细胞突出和肝门脉扩张。他母亲有轻微的颈椎畸形。我们讨论了鉴别诊断和困难，在自信地分配一个诊断这个病人，因为相当大的重叠是越来越明显的Simpson-Golabi-Behmel综合征和Perlman综合征。
We present the case of a male infant, born prematurely (at 33 weeks gestation) with macrosomia, disproportionate macrocephaly, facial dysmorphism, short penis and a small umbilical defect. He had a large ASD and was ventilated from birth for respiratory distress syndrome. He died at 12 hours of age despite neonatal ITU care. Post‐mortem examination showed highly lobulated kidneys with nodules of blastema and foci of hamartomatous change in the medulla. Prominence of pancreatic islet cells and expansion of hepatic portal tracts were also noted. His mother has minor cervical spine abnormalities. We discuss the differential diagnosis and the difficulty in confidently assigning a diagnosis to this patient, as considerable overlap is becoming evident between Simpson‐Golabi‐Behmel syndrome and Perlman syndrome.