Koçak H, Ozaydin E, Köse G, Marcelis C L M, Kamsteeg E J, Ceylaner S
Department of Medical Genetics, SB Ankara Diskapi Children's Hospital, Ankara, Turkey.
Genet Couns. 2009;20(3):261-7.
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant inheritance with full penetrance, and variable expressivity. Digital anomalies are almost always present. The gene for FS is localized to a 2.2 cM region in 2p23-p24. We report on the first Turkish family with Feingold syndrome. The propositus is a male infant with microcephaly, frontal balding, brachymesophalangy of the second and fifth fingers, bilateral syndactyly of toes 2-3, facial anomalies, choanal atresia and focal epilepsy. His father has microcephaly, and more severe hands and feet abnormalities. One of his brothers died because of eosofageal atresia. Clinical presentation of the family was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. The missense mutation we report here has not been described previously. FS is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.
法因戈尔德综合征（FS）是一种常染色体显性遗传疾病，其特征为小头畸形，可伴有或不伴有学习障碍、手足异常、睑裂短小以及食管/十二指肠闭锁。该综合征具有常染色体显性遗传、完全外显率和可变表达性。几乎总会出现手指异常。FS基因定位于2p23 - p24区域的2.2厘摩处。我们报告了首例患有法因戈尔德综合征的土耳其家族。先证者是一名男婴，患有小头畸形、额部秃发、第二和第五指中节短小、2 - 3趾双侧并指、面部异常、后鼻孔闭锁和局灶性癫痫。他的父亲有小头畸形以及更严重的手足异常。他的一个兄弟因食管闭锁死亡。该家族的临床表现提示为法因戈尔德综合征，对MYCN基因的基因检测确诊了这一诊断。我们在此报告的错义突变此前未曾被描述过。FS是一种常染色体显性疾病，因此，该诊断对遗传咨询具有重要意义。
