STUDIES OF MALFORMATION SYNDROMES OF MAN XXXIII - FG SYNDROME - X-LINKED RECESSIVE SYNDROME OF MULTIPLE CONGENITAL ANOMALIES AND MENTAL-RETARDATION
STUDIES OF MALFORMATION SYNDROMES OF MAN XXXIII - FG SYNDROME - X-LINKED RECESSIVE SYNDROME OF MULTIPLE CONGENITAL ANOMALIES AND MENTAL-RETARDATION
复制标题
DOI：
10.1007/bf00439020
复制
发表时间：
1974-01-01
期刊：
影响因子：
--
通讯作者：
KAVEGGIA, EG
中科院分区：
文献类型：
--
作者：
OPITZ, JM;KAVEGGIA, EG
三个兄弟和他们的两个堂兄弟患有以前未明确界定的多发性先天性异常、智力迟钝综合征，被称为FG综合征，包括各种各样的生长问题，如不成比例的大头、特征性外观和轻微异常、先天性肛门畸形、轻度至重度智力迟钝和先天性肌张力减退;幽门狭窄、左心发育不全、泌尿道广泛扩张、第三和第四指皮肤并指和严重颅缝早闭各1例。部分胼胝体发育不全的1例被怀疑在另一个脑电图异常的基础上。1例患儿死于先天性心脏病，2例患儿分别于20个月和23个月时死于肺炎。FG综合征是一种X连锁隐性遗传疾病，杂合子表现正常。
Three brothers and two of their male first cousins were affected with a previously apparently undefined multiple congenital anomaly, mental retardation syndrome which was designated theFGsyndrome and which consists of variable growth problems with a disproportionately large head, characteristic appearance and minor anomalies, imperforate anus, mild to severe mental retardation and congenital hypotonia; pyloric stenosis, hypoplastic left heart, generalized dilatation of the urinary tract, cutaneous syndactyly of third and fourth fingers, and severe craniosynostosis were seen each in 1 patient. Partial agenesis of the corpus callosum seen in 1 patient is suspected in another on the basis of EEG abnormalities. 1 boy died neonatally with congenital heart disease, and 2 others of pneumonia at 20 and 23 months. TheFGsyndrome is an X-linked recessive condition; heterozygotes appear grossly normal.