Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications : a novel syndrome ?
Joint Authors
Ghani, Iman A.
al-Qaysi, Muhammad I.
Abu Jabir, Nadin
Tavares, Purificacao
Aql, Kamal F.
al-Baramki, Jumanah H.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 2 (30 Apr. 2015), pp.195-197, 3 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-04-30
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Topics
Abstract EN
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.
American Psychological Association (APA)
Aql, Kamal F.& al-Baramki, Jumanah H.& Ghani, Iman A.& al-Qaysi, Muhammad I.& Abu Jabir, Nadin& Tavares, Purificacao. 2015. Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications : a novel syndrome ?. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 2, pp.195-197.
https://search.emarefa.net/detail/BIM-564491
Modern Language Association (MLA)
Aql, Kamal F.…[et al.]. Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications : a novel syndrome ?. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 2 (Apr. 2015), pp.195-197.
https://search.emarefa.net/detail/BIM-564491
American Medical Association (AMA)
Aql, Kamal F.& al-Baramki, Jumanah H.& Ghani, Iman A.& al-Qaysi, Muhammad I.& Abu Jabir, Nadin& Tavares, Purificacao. Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications : a novel syndrome ?. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 2, pp.195-197.
https://search.emarefa.net/detail/BIM-564491
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 197
Record ID
BIM-564491