Rintala A, Ranta R, Stegars T
Scand J Plast Reconstr Surg. 1984;18(2):237-40. doi: 10.3109/02844318409052844.
In a series of Pierre Robin syndrome (PRS) and isolated cleft palate patients (ICP) both U- and V-formed clefts were observed with equal frequency, but the PRS clefts were in average slightly wider. There were totally submucous clefts among the PRS patients. There was no statistical difference between the groups in the prevalence of clefts in the relatives of the patients. The incidence of (genetically influenced) conical elevations in the lower lip was lowest in the noncleft subjects, high in ICP and highest in PRS children. The incidence of hypodontia, which acceptedly is genetically influenced, was also highest in the PRS group. Thus the foetal malposition with the tongue between the palatal shelves does not seem to play any decisive role in the pathogenesis of most PRS clefts. The cause for the PRS is more likely a genetically influenced growth disturbance in the maxilla and the mandible, which due to the organogenetic differences leads to diverging end results, micrognathia and cleft.
在一系列皮埃尔·罗宾综合征(PRS)患者和单纯腭裂患者(ICP)中,U型和V型腭裂的观察频率相同,但PRS患者的腭裂平均略宽。PRS患者中完全为黏膜下腭裂。两组患者亲属中腭裂的患病率无统计学差异。下唇(受遗传影响)锥形隆起的发生率在非腭裂受试者中最低,在ICP患者中较高,在PRS儿童中最高。公认受遗传影响的牙齿发育不全的发生率在PRS组中也最高。因此,胎儿舌位于腭突之间的位置异常似乎在大多数PRS腭裂的发病机制中不起任何决定性作用。PRS的病因更可能是上颌骨和下颌骨受遗传影响的生长紊乱,由于器官发生差异导致不同的最终结果,即小颌畸形和腭裂。