WOLF-HIRSCHHORN SYNDROME: REPORT OF TWO CASES IN BOSNIA AND HERZEGOVINA
Helji* S1,*, Hadzagic-Catibušic F1, Maksic H1, Terzic S1, Djozic M1, Mackic M2, Catovic A2
*Corresponding Author: *Corresponding Author: Dr. Suada Heljic, Pediatric Clinic, Clinical University Center Sarajevo, Bolnica 25, 71 000 Sarajevo, Bosnia and Herzegovina; Tel./Fax: +387-332-58481; E-mail: heljicsuada@hotmail.com
page: 77

CASE REPORTS

 

First Case. This was the second, female, child of young and healthy parents.The family history for inborn diseases and consanguinity was negative. The first child was healthy. Intrauterine growth retardation was detected prenatally, from the 23rd week of gestation. The baby was born by vaginal delivery, 7 days after term, without any complications. Apgar score was 8/8. Birth weight was 2.390 g (<10p) , birth length 48 cm, head circumference 31 cm (<10p). During hospitalization of the baby, repeated seizures, hypotonia and poor suction reflex were recorded.



Figure 1. Characteristic dysmorphic features (Greek war rior helmet facies).

Figure 2. General appearance of patient with WHS.

Figure 3. Cytogenetic analysis of the patient: karyotype 46;XX,del(4) (p15-p16).

The head showed microcephaly, dolichocephaly, fron tal bossing, high frontal hairline, prominent glabella, hypertelorism, broad nose, down slanting palpebral fis sures, exotropia, micrognathia, downturned mouth (carp like mouth), high-arched palate and large misshapen ears (Figure 1).

 The trunk was relatively long and the chest was long and narrow. There were cervical spine anomalies (agenesis of bodies of vertebrae C4 and C5), long fingers and hypo plasia of great toes (Figure 2). There was partial agenesis of the corpus callosum. The heart showed foramen ovale apertum, without a septal defect. There was a cyst of the right kidney. The patient was hypotonic, with feeding diffi culties and clinical manifestation of seizures. The karyo type was 46;XX,del(4) (p15-p16) (Figure 3).

Second Case. This was the first female child of young parents, resulting from an uneventful pregnancy. The child was born by cesarean section, due to intrapartal asphyxia, 2 weeks after term. The birth weight was 2.200 g (<10 p), birth lenght 44 cm (<10p), head circumference 30.5 cm. (<10p). Hypotonia and feeding difficulties were present from the beginning.

Figure 4. Typical craniofacial anomalies.

The head was dysmorhic, with a bird like face, wide nasal bridge and a broad, bent nose (Greek warrior helmet face), cleft palate, hypertelorism, micrognathia and low positioned misshapen ears (Figure 4). The fingers were long and slender, with abnormal palmar and plantar finger position. There was partial enlargement of the left lobe of the liver and spleen malrotation with the hilus pointed towards the stomach. The left kidney was dislocated and low positioned, with bilateral pyelectasia. The heart showed a 6 mm long atrial septal defect, with an obvious left-to-right shunt. The karyotype was 46, XX, del (4) (p15.2-p16.3)





Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006