Wieg C, Meinecke P
Altonaer Kinderkrankenhaus, Hamburg.
Monatsschr Kinderheilkd. 1991 Oct;139(10):687-9.
We report on two half-brothers with the FG syndrome which is an X-linked recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Both patients show postnatal short stature and an altogether characteristic face consisting of droopy appearance, macrocephaly, frontal upsweep, hypertelorism, full lower lip, retrognathia, and dysmorphic ears. Moreover, since early infancy both have a tendency towards constipation, their muscle tone is low and psychomotor development is moderately retarded. Minor expression of this syndrome in the patients' mother and her two mentally retarded brothers give additional support to the X-linked nature of the condition. On the basis of the pertinent literature, a concise description of this MCA/MR syndrome with variable expression is given. Diagnostic evaluation of dysmorphic male patients with psychomotor retardation should always consider the FG syndrome which has been known since 1974 but still is inadequately recognised in the German literature.
我们报告了两名患有FG综合征的同父异母兄弟,该综合征是一种X连锁隐性多发性先天性异常/智力障碍(MCA/MR)综合征。两名患者均表现为出生后身材矮小,面部具有共同特征,包括面容下垂、巨头畸形、额部上翘、眼距增宽、下唇饱满、下颌后缩和耳部畸形。此外,自婴儿早期起,两人都有便秘倾向,肌张力低,精神运动发育中度迟缓。该综合征在患者母亲及其两名智力障碍兄弟中的轻微表现,进一步支持了该病的X连锁性质。基于相关文献,对这种具有可变表达的MCA/MR综合征进行了简要描述。对患有精神运动发育迟缓的畸形男性患者进行诊断评估时,应始终考虑FG综合征,该综合征自1974年以来就已为人所知,但在德国文献中仍未得到充分认识。