Trichorhinophalangeal syndrome II, expanding the clinical spectrum
Joint Authors
Sayf al-Din, Nifin S.
Abd al-Khaliq, Hibah Salah
Muhammad, Shayma Abd al-Sattar
Shawki, Rabah M.
al-GhawabI, Ahmad E. S.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 16, Issue 1 (31 Mar. 2015), pp.89-94, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2015-03-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents.
He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II.
The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows.
The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses.
The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint.
However our patient has some features not reported in TRPS II patients.
These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs.
So we have to expand the clinical spectrum.
Karyotype demonstrated 46, XY, del 8 (q23.3-q24.1).
American Psychological Association (APA)
Shawki, Rabah M.& Abd al-Khaliq, Hibah Salah& al-GhawabI, Ahmad E. S.& Muhammad, Shayma Abd al-Sattar& Sayf al-Din, Nifin S.. 2015. Trichorhinophalangeal syndrome II, expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 1, pp.89-94.
https://search.emarefa.net/detail/BIM-517495
Modern Language Association (MLA)
Shawki, Rabah M.…[et al.]. Trichorhinophalangeal syndrome II, expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 1 (2015), pp.89-94.
https://search.emarefa.net/detail/BIM-517495
American Medical Association (AMA)
Shawki, Rabah M.& Abd al-Khaliq, Hibah Salah& al-GhawabI, Ahmad E. S.& Muhammad, Shayma Abd al-Sattar& Sayf al-Din, Nifin S.. Trichorhinophalangeal syndrome II, expanding the clinical spectrum. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 1, pp.89-94.
https://search.emarefa.net/detail/BIM-517495
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 93-94
Record ID
BIM-517495