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.

A systematic review of barriers to accessing cleft care worldwide

“…The articles were published between 1986 and 2020. Six came from the United States (Al Agili et al, 2004;Becker et al, 2009;Bennett et al, 2018;Cassell et al, 2013Cassell et al, , 2014Zaluzec et al, 2019), two from Vietnam (Swanson et al, 2017;Yao et al, 2016), three from various countries (Adetayo et al, 2012;Carlson et al, 2016;Massenburg et al, 2016), one from Australia (Woincham et al, 2015), one from South Wales (Bhatia & Collard, 2012), one from Sri Lanka (Amaratunga, 1986), one from Brazil (Ise et al, 2019), and one from Nepal (Lindeborg et al, 2020). Regarding the type of study, all were observational studies (Table 1).…”

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt

“…In 2001, Son et al (2001) also presented a case with median cleft of the lower lip and mandible concomitant with double-inlet single ventricle. In 2013, Adetayo and Martin (2013) reported a 37-week-old infant with a Tessier 30 cleft concomitant with levocardia, perimembranous moderate-to-large VSD, patent foramen ovale, double-outlet right ventricle, intestinal malrotation, and bilateral undescended testicles. In 2015, Tafreshi et al (2015) reported the first Iranian case of Tessier 30 of 12-hour-old boy with large VSD, a mild atrial septal defect, and a small patent ductus arteriosus.…”

Tessier Number 30 Clefts With Congenital Heart Defects

“…In 2013, Adetayo reported a 37-week-old infant with a Tessier 30 cleft concomitant with levocardia, a perimembranous moderate-to-large ventricular septal defect, a patent foramen ovale, double outlet right ventricle, intestinal malrotation, and bilateral undescended testicles ( 3 ). In 2001, Son also presented a case with median cleft of lower lip and mandible concomitant with double inlet single ventricle ( 9 ).…”

“…The severity of the cleft can vary from mild notching of the lower lip or mandibular alveolus to complete mandibular, lower lip, and tongue cleavage, which extends to neck structures ( 1 ). Different malformations in other organs such as heart, limbs, and internal organs are also reported concomitant with Tessier 30 ( 3 , 4 ).…”