Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?
| Autor: | Nadeen Abujaber, Eman A. Ghani, Jumana Albaramki, Mohammad I. Al Qaisi, Kamal F. Akl, Purificação Tavares |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
medicine.medical_specialty
lcsh:QH426-470 Chromosome 9 Microduplication Biology Ptosis Prune belly syndrome medicine Clinical significance Genetics(clinical) Global developmental delay Genetics (clinical) Genetic testing Low-set ears Chromosome 7 (human) lcsh:R5-920 Chromosome 7 medicine.diagnostic_test medicine.disease Chromosome 12 Surgery lcsh:Genetics Abdominal muscles medicine.symptom lcsh:Medicine (General) human activities |
| Zdroj: | Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 195-197 (2015) Egyptian Journal of Medical Human Genetics; Vol 16, No 2 (2015); 195-197 |
| ISSN: | 1110-8630 |
| DOI: | 10.1016/j.ejmhg.2014.12.001 |
| Popis: | Absent abdominal muscles, cryptorchidism, and hydroureteronephrosis are known to occur in the prune belly syndrome (PBS). We present a male with absent abdominal muscles, severe neurologic damage, with global developmental delay, hydroureteronephrosis, and cryptorchidism. The patient also had arthrogryposis multiplex congenital, low set ears, short neck, micrognathia, bilateral total ptosis, and bilateral clubfeet. Genetic testing (CGH array) revealed 3 novel duplications of unknown clinical significance at 7q11.23, 9q22.32 (PTCH 1 gene), and 12q21.32 (CEP 290 gene). Conclusion We feel that our patient represents a novel entity, henceforth not described in the literature. |
| Databáze: | OpenAIRE |
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