Case Report
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
Table 1
Comparison of phenotypes in the cases and frequency of each phenotype in literatures.
| | Clinical Features | Wolf-Hirschhorn phenotypes 4p16.3 | Case 1
4p16-pter
(8.5 Mb) | Case 2
4p16.3
(3.5 Mb) | Frequency of phenotypes 4p15.32–4p16.3 [3, 12]. |
| | Dysplastic ears | + | + | + | 80% | | Hypotonia | + | + | + | 75% | | High forehead | + | + | + | 50% | | Colobomata of iris | + | + | + | 40% | | Broad or beak nose | + | + | + | ? | | Hypertelorism | + | + | + | ? | | Prominent glabella | + | + | + | ? | | Microcephaly | + | + | − | 90% | | Mental retardation | + | + | − | 75% | | Growth retardation | + | + | − | 75% | | Congenital defects (ASD) | + | + | − | 50% | | Micrognathia | + | + | − | ? | | Short philtrum | + | + | − | ? | | Preauricular tags | + | + | − | ? | | Downturned corners of the mouth with fish-type appearance | + | + | − | ? | | High arched palate | + | − | + | 30% | | Nystagmus | − | + | + | ? | | Hyper convex finger nails | − | + | − | 60% | | Dental caries | − | − | + | 50% | | Narrow palpebral fissures | − | − | + | 50% | | Microcornea | − | − | + | 40% | | Strabismus | − | + | − | ? | | Micro-ophthalmia | − | − | + | ? | | Seizuires | + | − | − | 93% | | Feeding difficulty | + | − | − | 75% | | Skeletal anomalies | + | − | − | 60% | | Renal anomalies | + | − | − | 40% | | Hypospadias | + | − | − | 40% | | Epicanthus | + | − | − | ? |
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