面部数字综合症,特别是莫尔综合征,是一种罕见的遗传性疾病,其特征是主要的口面异常和多指。虽然通常与常染色体隐性遗传和X连锁显性遗传模式相关,该病例表现为常染色体显性遗传模式。这份报告记录了三个人的临床表现,一个12岁的男孩和两个女人,10岁和8岁,他们从祖先那里继承了这种疾病。观察到的特征包括上肢和下肢的轴后多指,男童表现出斜视和膝关节缺损的额外表现。由于没有并发症,因此实行对症管理,计划对所有三个孩子进行手术干预和随后的美容修复。手术后物理治疗被安排为其综合治疗计划的一部分。这种疾病的预后通常是良好的,预计完全恢复,无并发症。
Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this
case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors. The observed features include post-axial polysyndactyly in both upper and lower limbs, with the male child exhibiting additional manifestations of strabismus and knee joint defects. Symptomatic management is pursued due to the absence of complications, with surgical interventions and subsequent cosmetic repairs planned for all three children. Post-surgical physiotherapy is scheduled as part of their comprehensive treatment plan. The prognosis for this disorder is generally favorable, with a complete recovery anticipated and no complications expected.