292 - 12-Year-Old Male with Xq21 Microdeletion Syndrome

Unstructured Abstract:

A twelve-year-old patient with Xq21 Microdeletion Syndrome, a rare X-linked condition (0.015% occurrence rate) associated with choroideremia, cleft palate, intellectual disability (IQ < 70), dysmorphic facial features, autism, schizophrenia (0.2%-0.6%) [4], and hearing impairment presented to JHMC Pediatric Dental Clinic [6]. Very little information is known about the syndrome, and its effects can vary significantly among members of the same family. [1,4].  About 75% of all children with the condition exhibit hypotonia, 16% have seizures that typically begin during infancy [2], and 30% may have generalized mild learning difficulties [2,4]. After addressing concerns about general anesthesia and sedation, the patient’s mom agreed to conservative care with advanced behavioral management techniques. Leveraging passive protective stabilization, and weighted blankets for deep pressure input, comprehensive care was rendered. This case highlights the use of behavior management choices in the clinic for a special needs patient.

References:

1. 
   

   “Choroideremia: MedlinePlus Genetics.” Medlineplus.gov, medlineplus.gov/genetics/condition/choroideremia/#inheritance.
   



2. 
   

   Giordano, M., Gertosio, C., Pagani, S., et al. A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment, and combined growth hormone deficiency. BMC Med Genet 16, 74 (2015).
   



3. 
   

   Iossa S, Costa V, Corvino V, Auletta G, Barruffo L, Cappelli S, Ceglia C, Cennamo G, D'Adamo AP, D'Amico A, Di Paolo N, Forte R, Gasparini P, Laria C, Lombardo B, Malesci R, Vitale A, Marciano E, Franzè A. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet. 2015 Mar 20;8:18. Doi: 10.1186/s13039-015-0120-0. PMID: 25821518; PMCID: PMC4376344.
   



4. 
   

   Liang, S., Jiang, N., Li, S. et al. A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. Mol Cytogenet 10, 23 (2017). https://doi.org/10.1186/s13039-017-0324-6