Münke M, McDonald D M, Cronister A, Stewart J M, Gorlin R J, Zackai E H
Children's Hospital, Philadelphia, Pennsylvania.
Am J Med Genet. 1990 Mar;35(3):360-9. doi: 10.1002/ajmg.1320350310.
Cerebellar anomalies are consistent findings in patients with the oral-facial-digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have a hypoplastic cerebellar vermis shown by magnetic resonance imaging (MRI), as well as clinical signs of cerebellar defect. Polydactyly of the hands is characterized by a central Y-shaped metacarpal. Clinically recurrent episodes of tachypnea and hyperpnea are remarkable. Postnatal growth is delayed with short stature in all 3 patients possibly due to growth hormone deficiency in one of them. In contrast to reported patients who are all severely mentally retarded, one of our patients is of normal intelligence. Type VI oral-facial-digital syndrome is an autosomal-recessive trait and may be detected prenatally.
小脑异常是Ⅵ型口面指综合征（瓦拉迪综合征）患者的常见表现，此外还有面部和口腔的各种变化以及手足多指（趾）畸形。我们报告了3例患有该病症的非亲缘关系患者，磁共振成像（MRI）显示他们的小脑蚓部发育不全，同时伴有小脑缺陷的临床体征。手部多指（趾）畸形的特征是中央掌骨呈Y形。临床上，呼吸急促和呼吸深快的反复发作很明显。所有3例患者出生后生长发育延迟，身材矮小，其中1例可能是由于生长激素缺乏所致。与报道的所有患者均严重智力发育迟缓不同，我们的1例患者智力正常。Ⅵ型口面指综合征是一种常染色体隐性性状，可在产前检测到。
