Coady M S, Moore M H, Wallis K
Department of Plastic and Reconstructive Surgery and the Australian Cranio-facial Unit, The Women's and Children's Hospital, North Adelaide.
Plast Reconstr Surg. 1998 Mar;101(3):640-9. doi: 10.1097/00006534-199803000-00010.
The pathologic cause of both rare craniofacial clefts and congenital limb ring constrictions is the subject of some debate. Uncommon though these two conditions are, they have often been anecdotally reported in association. This study sought to determine the frequency of congenital limb anomalies in general and limb ring constrictions in particular amongst a population of patients with rare craniofacial clefts. Eighty-five cases of nonsyndromal, rare, craniofacial cleft were identified from a population of 280 patients assessed at the Women's and Children's Hospital, North Adelaide, with a diagnosis of rare craniofacial cleft classifiable by the Tessier system. Twenty-two patients (25.9 percent) displayed congenital limb anomalies. Eleven of these (12.9 percent) showed evidence of limb ring constrictions, a frequency much greater than in the general population. The group with limb ring constrictions demonstrated a significantly greater complexity of involvement with craniofacial clefting than the non-limb ring constriction group (4.27 clefts/patient versus 2.3 clefts/patient, p < 0.01). The distribution of craniofacial cleft locations in patients with evidence of limb ring constrictions was found to differ significantly from those with other or no limb anomalies (p < 0.01). The clefts in cases in which limb ring constrictions coexist are largely restricted to the paramedian 2-12, 3-11, 412 axes. This study confirms an association between rare craniofacial clefts and limb ring constrictions. The two conditions may therefore possess common etiology.
罕见的颅面裂和先天性肢体环状缩窄的病理原因存在一定争议。尽管这两种情况并不常见，但经常有相关的轶事报道。本研究旨在确定在患有罕见颅面裂的患者群体中，一般先天性肢体异常尤其是肢体环状缩窄的发生率。从北阿德莱德妇女儿童医院评估的280例患者中，识别出85例非综合征性、罕见的颅面裂病例，其诊断可根据泰西埃系统进行分类。22例患者（25.9%）表现出先天性肢体异常。其中11例（12.9%）有肢体环状缩窄的迹象，这一发生率远高于普通人群。与无肢体环状缩窄的组相比，有肢体环状缩窄的组颅面裂受累的复杂性明显更高（4.27处裂/患者对2.3处裂/患者，p<0.01）。发现有肢体环状缩窄迹象的患者颅面裂位置分布与有其他肢体异常或无肢体异常的患者有显著差异（p<0.01）。肢体环状缩窄并存病例中的裂主要局限于旁正中2 - 12、3 - 11、4 - 12轴。本研究证实了罕见颅面裂与肢体环状缩窄之间的关联。因此，这两种情况可能具有共同的病因。
