Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
Table 2
The comparison of clinical features of Wolf-Hirschhorn syndrome which were found in common in the present case and in previously reported cases of ring chromosome 4.
Clinical signs associated with WHS (Zollino et al., 2008 [25])
Number of reported cases of ring chromosome 4
Present case
Facial dysmorphism (2 or more abnormal facial features, excluding facial clefts)
11/17
+
Mental retardation
8/13
NA
Seizures
2/16
−
Prenatal growth retardation
15/16
+
Postnatal growth retardation
16/16
+
Microcephaly
15/16
+
Hypotonia
2/16
−
Congenital heart defects
6/17
+
Cleft lip/cleft palate
5/17
+
Ocular colobomas
3/17
−
Hypospadias
4/11
NA
Renal abnormalities
6/17
+
Skeletal abnormalities
11/17
+
WHS: Wolf-Hirschhorn syndrome. NA: not applicable.
