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]