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
- Developmental Disorder
Am J Hum Genet. 2007, 81:280-91. 10.1086/519530 Karolak JA, Vincent M, Deutsch G, et al.: Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway. [cureus.com]
Gastrointestinal
- Failure to Thrive
Patient was referred to Pediatric Gastroenterology for failure to thrive. At three month follow-up, the patient was gaining weight and referred to Otolaryngology for a palatal ulcer. [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]