A Unique Case of Tessier 30 and Bilateral Cleft Lip and Palate: A New Clinical Syndrome?

Abstract

Background : Tessier 30 cleft is rare and sparsely reported in the literature. A unique case of an infant with a Tessier 30 cleft, bilateral cleft lip and palate, and other anomalies is presented. In addition to craniofacial anomalies, he had cardiac, gastrointestinal, and genitourinal defects. The constellation of these findings suggests the possibility of a new clinical syndrome. We present these findings and postoperative results following surgical treatment. Patient and Methods : A 37-week gestational male infant with multiple congenital anomalies is presented. Findings on clinical exam were notable for Tessier 30 median mandibular cleft, bilateral cleft of the lip and palate, and bifid tongue. Further workup revealed levocardia, perimembranous moderate-to-large ventricular septal defect, patent foramen ovale, double outlet right ventricle, intestinal malrotation, and bilateral undescended testicles. There were no extremity anomalies, and cytogenetic studies for 22q deletion were negative. Results : The preoperative, intraoperative, and postoperative findings and images are discussed. Conclusion : We present a unique case of a child with a Tessier 30 cleft associated with bilateral cleft lip and palate in the absence of intraoral masses or limb anomalies. Previous reports of median facial clefts have occurred either in the presence of intraoral hamartomas, suggesting the palatal defects are a result of sequence abnormalities, or in association with extremity findings consistent with the spectrum of orofaciodigital syndrome. The case we present is distinct and may represent a new clinical syndrome.