Toriello H V, Radecki L L, Sharda J, Looyenga D, Mann R
Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.
Am J Med Genet Suppl. 1986;2:89-96. doi: 10.1002/ajmg.1320250613.
We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.
我们描述了一名患有额鼻“发育异常”的男孩；存在脑部异常，包括胼胝体发育不全以及可能的Dandy-Walker畸形（在该病例中，小脑蚓部缺如、小脑和脑干发育不全，并可能存在后颅窝囊肿）；颈部短，躯干相对较长而四肢短；隐睾；以及手足多指（趾）畸形。我们怀疑他患有一种病因目前未知且此前未被描述过的综合征。鉴于脑部和面部缺陷的不寻常组合，我们还从发育领域的角度讨论了该病例。
