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Ann Dermatol 2022 Apr 24;34(2):132-135. Epub 2022 Mar 24.

Department of Dermatology, Hanyang University Medical Center, Seoul, Korea.

Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. Read More

Brain Dev 2022 Feb 5;44(2):161-165. Epub 2021 Nov 5.

Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.

Background: Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and JS-related disorders (JSRD) with additional organ involvement including oral-facial-digital syndrome and so on. They often share common and unexpected phenotypic features.

Case Presentation: We report a 4-year-old-boy case with compound heterozygous variants of ADAMTS9. Read More

J Craniofac Surg 2021 Nov-Dec 01;32(8):e759-e761

Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

Abstract: Congenital tumor of tongue is not rare, but associated with cleft palate and bifid tongue is unusual. The authors describe a case of 7-year-old patient having bifid tongue, congenital tongue tumor, and cleft palate. Clinical features, physical and pathological examinations, possible diagnosis, and surgical treatment have been elaborated in this case report. Read More

World J Clin Cases 2021 Aug;9(24):7269-7278

Department of Oral Medicine, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, Zhejiang Province, China.

Background: Moebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity are also compromised, characterized by microstomia, micrognathia, tongue malformation, cleft lip, high arched palate or cleft palate, bifid uvula, and dental malocclusion. Therefore, dentistry plays a fundamental and crucial role in caring for these individuals. Read More

Arch Pediatr 2021 Oct 8;28(7):576-579. Epub 2021 Sep 8.

Department of Oral and Maxillofacial Surgery, University Hospital of Giessen and Marburg UKGM GmbH, Campus Marburg, Faculty of Medicine, Philipps University, Marburg 35043, Germany.

Background: Children with tongue injuries often visit the pediatric emergency department. The vast majority of cases can be conservatively treated, while some injuries require operative repair. The aim of this article was to demonstrate a "back-to-basics" approach to a refractory bifid tongue injury in a toddler. Read More