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17q23.1q23.2 Microdeletion Syndrome
17q23.1-q23.2 Microdeletion Syndrome

Presentation

The other male case presented with a shawled scrotum [1]. In comparison to a previously published case on 11p11.2q13.4 [16], our patient presented with hypertonia, microcephaly, high arched palate, and startle reflex at two months. [cureus.com]

Musculoskeletal

  • Thin Fingers

    The current case presented with long, thin fingers and microcephaly similar to findings in previously reported cases. [cureus.com]

Neurologic

  • Tremor

    He presented with hypotonia, poor feeding, poor weight gain in the first week of life followed by hypertonia, and tremors from the second week of life. Neurology managed the hypertonia and tremors, and Urology the glandular hypospadias. [cureus.com]

Treatment

The following resources can be used to stay informed about new treatments and research results related to a rare disease: PubMed PubMed is a database of published research articles. [rarediseases.info.nih.gov]

The addition of detailed patient cases may lead to pertinent screening and treatment guidelines may be produced to help patients, families, and their providers manage 17q23.1q23.2 microdeletion syndrome. [cureus.com]

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