Fokstuen S, Bottani A, Medeiros P F, Antonarakis S E, Stoll C, Schinzel A
Institut für Medizinische Genetik der Universität Zürich, Switzerland.
Am J Med Genet. 1997 May 16;70(2):130-3.
The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome. We observed three patients with type III laryngeal atresia (glottic web) and 22q11.2 microdeletion. One patient showed a "classical" 22q11.2 deletion phenotype with clinical overlap with DiGeorge and velo-cardio-facial syndromes. However, the pattern of congenital anomalies of the two others was less specific, heart defects and minor anomalies being the only outstanding clinical manifestations suspicious for monosomy 22q11.2. Our findings suggest that laryngeal atresia represents an additional malformation which should prompt investigation of 22q11.2 deletion, especially in combination with congenital heart defects.
22q11.2缺失患者的临床表现高度可变，主要包括源自第三和第四咽囊结构的发育缺陷。喉闭锁偶尔在迪格奥尔格综合征以及腭心面综合征中被报道。我们观察到3例III型喉闭锁（声门蹼）合并22q11.2微缺失的患者。1例患者表现出“典型”的22q11.2缺失表型，临床与迪格奥尔格综合征和腭心面综合征重叠。然而，另外2例患者的先天性异常模式不那么特异，心脏缺陷和轻微异常是仅有的可疑22q11.2单体的突出临床表现。我们的研究结果表明，喉闭锁代表一种额外的畸形，应促使对22q11.2缺失进行检查，尤其是合并先天性心脏缺陷时。
