研究Waardenburg综合征(WS)强调了其罕见和复杂的症状,表现为先天性疾病,主要以常染色体显性遗传。它表现出不完整的外显率,导致广泛的临床表现,在同一家族中也具有可变的表型表现。最常见的特征是面部异常,皮肤色素沉着减退,虹膜异色症,和传导性耳聋。除了这种综合征的怪癖之外,还有它的四种亚型,每个都有其特定的临床特征,这有助于描述子类型。一个突变的配对盒3(PAX3)基因表现为1型Waardenburg,其特征在于眼睛内角的侧向位移(即,反乌托邦角),宽间隔的眼睛,先天性感觉神经性听力障碍,虹膜的斑片状色素沉着,皮肤,和头发。由于研究不足,很难分离出所有导致2型的基因突变,但其表型与1型非常相似,差异很小。3型以肌肉骨骼异常为特征。Waardenburg-Shah综合征(4型),这与先天性巨结肠疾病相关,是最罕见的亚型,由内皮素受体B型(EDNRB)的基因突变引起,内皮素-3(EDN3),或性别决定区Y(SRY)框10(SOX10)基因。我们介绍了一系列这种独特亚型的病例,这些亚型具有典型的Hirschsprung疾病引起的便秘史,并且具有白前锁的表型表现,虹膜异色症,和双侧感音神经性听力损失(SNHL)。与白色前额的阳性1°家族史同时,我们反思这种独特综合症的基本原理,以及它的管理协议,强调遗传咨询的重要性和培养对其诊断的高怀疑指数。
Researching Waardenburg syndrome (WS) underscores its rarity and complex symptomatology, presenting as a congenital disorder predominantly inherited in an autosomal dominant pattern. It exhibits incomplete penetrance, which results in a wide range of clinical manifestations, with variable phenotypic presentations within the same family as well. The most commonly found features are facial abnormalities, hypopigmentation of the skin, heterochromia iridis, and conductive deafness. Adding to the eccentricities of this syndrome are its four subtypes, each presenting with its specific clinical features, which helps in delineating the subtype. A mutated paired box 3 (PAX3) gene manifests as type 1 Waardenburg, which is characterized by sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), widely spaced eyes, congenital sensorineural hearing impairment, and patchy pigmentation of the iris, skin, and hair. Due to insufficient research, it has been difficult to isolate all the genetic mutations responsible for type 2, but its phenotype is very similar to type 1 with minor differences. Type 3 is characterized by musculoskeletal abnormalities. Waardenburg-Shah syndrome (type 4), which is associated with Hirschsprung disease, is the rarest subtype and is caused by genetic mutations in the endothelin receptor type B (EDNRB), endothelin-3 (EDN3), or sex-determining region Y (SRY) box 10 (SOX10) gene. We present a case series of this unique subtype that presented with a typical history of constipation due to Hirschsprung disease and had phenotypic manifestations of white forelock, heterochromia iridis, and bilateral sensorineural hearing loss (SNHL). In parallel with a positive 1° family history of a white forelock, we reflect on the fundamentals of this unique syndrome, as well as its management protocols, highlighting the importance of genetic counseling and cultivation of a high index of suspicion for its diagnosis.