Page 106 - FINAL COMPENDIUM 2020-2021 27.2.2022

A MIRACLE GIRL WITH MOSAIC TRISOMY 22: A CASE REPORT

Mohamad Roslan SN, Wan Ahmed WA, Mohd Ariffin S

Introduction: Trisomy 22 is a rare chromosomal disorder that has been identified as the
third most common cause of spontaneous abortion. Mosaic Trisomy 22 is compatible with
prolonged survival of individuals while complete non-mosaic trisomy 22 is incompatible
with life. The limited literature available on Mosaic Trisomy 22 live born children reported
life expectancy ranges from 10 minutes to 3 years old while even fewer reported their
neurodevelopmental outcome and oral manifestations. Clinical presentations of Mosaic
Trisomy 22 children varies and include developmental delay, mild to severe intellectual
disability, webbed neck, hemidystrophy, hemiatrophy and cardiac abnormalities.
Craniofacial dysmorphic features include microcephaly, ptosis, ear malformations,
micrognathia and cleft palate. We present a girl with Mosaic Trisomy 22 with isolated cleft
palate requiring regular review at our clinic. Case report: In 2018, a 39 days of life baby
girl was referred to the Department of Paediatric Dentistry for feeding assistance and
management of cleft palate. She was born premature at 34 weeks 5 days with a birth
weight of 1.75kg. Medically, she has cavum veliinterpositi cyst with underlying
communicating hydrocephalus, epilepsy, global developmental delay and VACTERL
association of vertebral anomalies infantile scoliosis, atrial septal defect secundum and
bilateral hypoplastic kidneys. Extra-orally, her dysmorphic features include
microphthalmia and bilateral ear pit. She also has an isolated cleft palate. Feeding
assessment was done using special bottle and teat. Parents were also provided
anticipatory guidance on future management of her cleft palate. She was subsequently
referred to the Plastic and Reconstructive team for repair of her isolated cleft palate and
palatoplasty was done at age 2. During her latest dental review with us, early
demineralisation lesions were observed on her maxillary anterior teeth and primary
molars with dental anomalies of maxillary deciduous central incisors. She is currently
under our periodic dental review for preventive management and also to monitor overall
growth and development. Conclusion: Mosaic Trisomy 22 is a rare chromosomal disorder
and the clinical presentations may impact the overall quality of life of affected individuals.
Furthermore, there is lack of evidence and literature available pertaining to their growth
and development, especially of the orofacial region. Therefore, more information is
required regarding Mosaic Trisomy 22 to better understand the growth and development
and dental condition of affected individuals in order to provide them the optimum dental
care.

Keywords: Trisomy 22, Cleft palate, Mosaic, Oral manifestation
Virtual poster presentation at the 10 Pahang Research Day 2021 on 22 October 2021
th
Dr Siti Nabillah Binti Mohamad Roslan
Dr Shina Binti Mohd Ariffin
Dr Wan Aeisyah Binti Wan Ahmed
Department of Paediatric Dentistry
Sultan Haji Ahmad Shah Hospital
Temerloh, Pahang
Malaysia

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