Tiwari Nirat, Vagha Keta, Agarwal Aaditi, Uke Punam, Varma Ashish, K Sri Sita Naga Sai Priya
Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Cureus. 2024 Mar 21;16(3):e56623. doi: 10.7759/cureus.56623. eCollection 2024 Mar.
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.
口面指综合征，特别是莫尔综合征，是一种罕见的遗传性疾病，其特征主要为口面异常和多指（趾）畸形。虽然通常与常染色体隐性和X连锁显性遗传模式相关，但该病例呈现出常染色体显性遗传模式。本报告记录了三名患者的临床表现，一名12岁男童和两名女童，分别为10岁和8岁，他们从祖先那里遗传了这种疾病。观察到的特征包括上下肢轴后多指（趾）畸形，男童还表现出斜视和膝关节缺陷等其他症状。由于没有并发症，采取了对症治疗，计划对所有三名儿童进行手术干预及后续的美容修复。术后物理治疗作为他们综合治疗计划的一部分已安排妥当。这种疾病的预后总体良好，预计可完全康复且无并发症。
