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INTRODUCTION AND IMPORTANCE: Polydactyly of the hand is a common anomaly among pediatrics, which can present in conjugation with other syndromes or on its own. Various types can be seen, ranging from the involvement of skin only to a completely formed digit. We report the first case of pacifier type thumb duplication presenting with VACTERL association. Herein, we also summarize the existing literature of the distinctive features and management of pacifier polydactyly. CASE PRESENTATION: A premature male infant with intrauterine growth restriction due to maternal type II diabetes was referred for a soft tissue attachment to the left hand. The infant showed VACTERL association signs, including a single kidney, small atrial septal defect, and ventricular septal defect. Examination revealed preaxial polydactyly with a cystic swelling connected to the palm. CLINICAL DISCUSSION: Preaxial polydactyly is the second most common congenital hand anomaly, and its pathology is thought to involve the disruption of apoptosis during embryonic development. Pacifier-type polydactyly is a unique variation characterized by severe edema of the soft tissue digit, believed to be caused by physical damage in utero. The case presented did not require surgical intervention as the duplicated thumb underwent spontaneous autoamputation as opposed to other cases in the literature. CONCLUSION: This is the first reported case of pacifier-type thumb duplication in a patient with VACTERL association. The presentation of this condition adds to the existing body of literature on VACTERL association. Surgical removal is the treatment of choice for pacifier polydactyly, but spontaneous resolution can occur.
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BACKGROUND: Clefts of the lip and palate (CL/P) and cleft palate (CP) are the most common craniofacial congenital anomalies. Clefts are classified as syndromic and nonsyndromic. Nonsyndromic clefts have no known genetic causes. OBJECTIVES: This study combines prospective and retrospective studies to review the patterns of CL/P and CP and associated syndromes and conditions in patients registered for CL/P surgery at a tertiary care pediatric center in our tertiary care hospital in Saudi Arabia. METHODS: It included patient data from May 2015 through April 2023. Patient record forms and SPSS (IBM version 20.0) were used to collect and analyze data. A significance level of 5% was used, with p ≤ 0.05 considered statistically significant. RESULTS: Of the 319 patients who met our inclusion criteria, 175 were male. Of the total, 99 had a left unilateral isolated cleft lip, 61 had a right unilateral isolated cleft lip, 69 had a bilateral cleft lip, and 90 had an isolated CP. Of the total, 140 had CL/P. Around 242 were nonsyndromic. The Chi-square test revealed a significant association between the prevalence of isolated CP and CLP and gender. The prevalence of left unilateral isolated cleft lip and bilateral and isolated CP was significantly associated with syndromic and nonsyndromic cases. CONCLUSION: Males are more likely to be affected by orofacial clefts, which is consistent with the global trend. Isolated CP was the most common orofacial cleft. Within the sample, syndromes' association with orofacial clefts was significantly weaker than that of isolated and bilateral clefts.