Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series. (April 2021)

• Record Type: Journal Article
• Authors: Roelandt, Marie Anne; Devriendt, Koenraad; de Llano-Pérula, Maria Cadenas; Raes, Margot; Willems, Guy; Verdonck, Anna
• Is Part Of: Cleft palate-craniofacial journal. Volume 58:Number 4(2021)
• Page Start: 505
• Page End: 513
• Publication Date: 2021-04
• Subjects: 14q22.1 -- 14q22.1 deletion -- craniofacial characteristics -- dental characteristics -- case series; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1177/1055665620954090
• Languages: English
• ISSNs: 1055-6656

Abstract

This case series is a follow-up report focusing on dental and facial characteristics in patients with a rare microdeletion in chromosome 14q22.1-q22.2. Usually, these patients have severe ocular, brain, and digital abnormalities. However, this case series shows that clinical presentation can be mild. Four relatives spanning 3 generations were diagnosed with a familial autosomal dominant 2.79 Mb microdeletion in chromosome 14q22.1-q22.2. Genetic screening was done by the Bacterial Artificial Chromosome array-comparative genome hybridization and was confirmed by the fluorescence in situ hybridization technique. Dental and craniofacial data were collected from medical files, clinical examinations, clinical photos, panoramic and cephalometric radiographs, and dental casts. Written informed consent for scientific use was obtained for all family members. No larger syndrome could be identified. All cases had similar facial red flag characteristics, consisting of a long face with retrognathia and open mouth relation, associated oral clefts in varying degrees, depressed nasal bridge, delayed tooth development, hypertelorism, and low-set angular ears. The dental casts showed a distal molar occlusion and a lack of space in the dental arches. Developmental delay was noted together with limb defects such as poly- and syndactyly. Microphthalmia and hearing loss were present in the most severe cases. This rare congenital disorder, associated with facial dysmorphia, oral clefts, and tooth agenesis, can remain undiagnosed until adulthood. A family history of short stature, developmental delay, poly- or syndactyly, and micropthalmia are suggestive features. Similar reports help to raise awareness among dental practitioners, leading to an early genetic diagnosis.