Santolaya J M, Hall C M, García-Miñaur S, Delgado A
Department of Pediatrics, Basurto Hospital, Bilbao, Spain.
Am J Med Genet. 1998 May 18;77(3):241-5.
We report on a 4-year-old boy with craniometadiaphyseal dysplasia (CMDD), wormian bone type. Component manifestations include a large head with prominent forehead, skull changes showing multiple wormian bones, wide long tubular bones without the usual metaphyseal flare, wide and short tubular bones without the normal diaphyseal constriction, and wide ribs and clavicles. In addition to these findings, the propositus, his brother, his father, and a paternal aunt all have parietal protuberances, which seem not related to CMDD. Parental consanguineity supports the autosomal recessive transmission of the condition.
我们报告了一名4岁患有颅骨干骺端发育异常（CMDD）、蠕虫骨型的男孩。其组成表现包括头部较大且前额突出，颅骨改变显示有多个蠕虫骨，长管状骨宽阔且无正常的干骺端增宽，宽短管状骨无正常的骨干缩窄，以及肋骨和锁骨宽阔。除了这些发现外，先证者、他的兄弟、他的父亲和一位姑姑都有顶骨突出，这似乎与CMDD无关。父母近亲结婚支持该病的常染色体隐性遗传。
