WOLF-HIRSCHORN SENDROMU: OLGU SUNUMU

Özgür Çoğulu; ZüIal Ülger; Tufan Çankaya; Cumhur Gündüz; Ferda Özkınay

EN TR

WOLF - HIRSCHORN SYNDROME: A CASE REPORT

Abstract

We report on a case of Wolf-Hirschorn Syndrome with motor and mental retardation and dysmorphic facial feature. She was born 1250 g at term. Her parents were first cousins. She had frontal bossing, hypertelorism, esotropia, high palate. congenital lacrimal duct obstruction on the left side, down-turned comers of mouth, short philtrum. micrognathia. auricular pit. low posterior hair line, hyperconvex nail, sacral dimple and hypotonia Echocardiography showed atrial septal defect and pulmoner stenosis. Denver II developmental screening test represented developmental milestones below 4 months old. Karyotype of case showed [46.XX,del(4)(p15.2)]. Balanced reciprocal translocation was detected in her mother's cytogenetic analysis [46.XX. t(4;7)(p 15.2p2.2)]. We present this case because of having a rare chromosomal anomaly besides having consanguineous marriage between her parents. In conclusion it is suggested that cytogenetic analysis is useful and should be pertormed in all dysmorphic cases with multiple anomalies.

Keywords

Wolf-Hirschhorn syndrome, chromosome 4p

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Özgür Çoğulu

ZüIal Ülger

Tufan Çankaya

Cumhur Gündüz

Ferda Özkınay

Publication Date

March 1, 2001

Submission Date

March 1, 2001

Acceptance Date

-

Published in Issue

Year 2001 Volume: 40 Number: 1

IZ

https://izlik.org/JA83ZS34HU

Cite

RIS / Bibtex

Vancouver

1.Özgür Çoğulu, ZüIal Ülger, Tufan Çankaya, Cumhur Gündüz, Ferda Özkınay. WOLF-HIRSCHORN SENDROMU: OLGU SUNUMU. EJM [Internet]. 2001 Mar. 1;40(1):63-5. Available from: https://izlik.org/JA83ZS34HU

WOLF - HIRSCHORN SYNDROME: A CASE REPORT

Abstract

Keywords