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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]

Entire Body System

  • Short Stature

    People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. [rarediseases.info.nih.gov]

    Several examples of musculoskeletal abnormalities in patients with this syndrome include short stature, long and thin fingers, tibial torsion, aberrant acetabulum, and femoral head ossification, scoliosis, and limited extension of knee and elbow joints [cureus.com]

  • Poor Feeding

    The patient also presented with hypotonia, poor feeding, and poor weight gain in the first week of life followed by hypertonia and tremors from the second week of life. [cureus.com]

  • Sepsis

    Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. [cureus.com]

  • Pain

    Many patients exhibit additional features including gastrointestinal difficulties, high pain tolerance, sound hypersensitivity, facial abnormalities, strabismus, and small hands and feet [14,15]. [cureus.com]

Cardiovascular

  • Hypertension

    A recent study proposed these genes also affect lung development leading to lung hypoplasia and pulmonary hypertension [3, 11]. [cureus.com]

  • Systolic Murmur

    During the six week cardiology follow-up, the patient presented with an early systolic, grade I-II/VI murmur along the left sternal border, a normal electrocardiogram (EKG), and a mild left branch pulmonary stenosis. [cureus.com]

Musculoskeletal

  • Thin Fingers

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

  • Small Hand

    Many patients exhibit additional features including gastrointestinal difficulties, high pain tolerance, sound hypersensitivity, facial abnormalities, strabismus, and small hands and feet [14,15]. [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]

Workup

Serum

  • Hypoglycemia

    Our patient is a full-term baby boy admitted to a neonatal intensive care unit for hypoglycemia, respiratory distress, presumed sepsis, and thrombocytopenia. [cureus.com]

Microbiology

  • Chlamydia

    All other maternal infectious laboratory results were negative: Hepatitis B/HIV/Treponema pallidum, Neisseria gonorrhoeae/Chlamydia trachomatis (GC/CT), and Group-B Streptococcus (GBS). [cureus.com]

  • Neisseria Gonorrhoeae

    All other maternal infectious laboratory results were negative: Hepatitis B/HIV/Treponema pallidum, Neisseria gonorrhoeae/Chlamydia trachomatis (GC/CT), and Group-B Streptococcus (GBS). [cureus.com]

  • Chlamydia Trachomatis

    All other maternal infectious laboratory results were negative: Hepatitis B/HIV/Treponema pallidum, Neisseria gonorrhoeae/Chlamydia trachomatis (GC/CT), and Group-B Streptococcus (GBS). [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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