
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
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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)
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