Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns J P, Verloes A
Department of Pediatrics and Genetics, University Hospital Pontchaillou, Rennes, France.
Am J Med Genet. 1998 Feb 3;75(4):389-94.
Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1. In one case, vermis hypoplasia was present; in another, periventricular heterotopiae were noted. We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain. As for CNS malformations, renal cystic disease is an often overlooked complication specific to OFD 1. In 1 family, cystic medullary disease was noted in OFD 1 carriers, leading 1 patient to dialysis by age 35 years and the other to severe renal insufficiency by age 28 years. Longitudinal follow-up of OFD 1 carriers should be performed, and renal function should be assessed in those with cysts because the functional prognosis of this developmental anomaly may be worse than usually reported in the literature.
脑内囊肿、孔洞脑或蛛网膜囊肿在1型口面指综合征（OFD）中虽罕见但有反复报道。我们报告了2个观察到1型OFD综合征合并中枢神经系统（CNS）畸形的家系以及3例散发的伴有CNS缺陷的OFD病例，极有可能代表OFD 1的新发突变。1例存在小脑蚓部发育不全；另1例发现脑室周围异位。我们回顾了关于OFD综合征中CNS异常的文献，并强调对产前诊断为脑畸形的1型OFD女性携带者的子女进行遗传咨询和功能预后评估的困难。至于CNS畸形，肾囊性疾病是1型OFD特有的一种常被忽视的并发症。在1个家系中，在1型OFD携带者中发现了囊性髓质疾病，导致1例患者在35岁时接受透析，另1例在28岁时出现严重肾功能不全。应对1型OFD携带者进行纵向随访，对有囊肿者应评估其肾功能，因为这种发育异常的功能预后可能比文献中通常报道的更差。
