Case Report
Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
Table 1
Clinical signs in this patient previously described in the literature.
| Clinical signs described in other patients | Clinical signs observed in our patient |
| Intrauterine growth restriction (83%) | | Mental retardation (92%) | | Hypotonia (28%) | × | Seizures (17%) | | Large anterior fontanel | × | Ocular hypertelorism (56%) | × | Short nose (67%) | × | Broad nasal bridge (94%) | | Cleft lip/palate (94%) | × | Micrognathia (94%) | × | Low set posteriorly rotated ears (56%) | × | Abnormal pinnae (67%) | | Fifth finger clinodactyly (44%) | × | Tapering fifth finger (50%) | | Pointed duplicated fifth fingernail (33%) | × | Absent to hypoplastic flexion creases of fifth finger | × | Abnormal thumb or hallux implantation (44%) | × | Simian crease (61%) | | Overlapping toes (22%) | × | Cardiac defects (61%) | × | Genitourinary defects (50%) | | Gastrointestinal defects (22%) | | Occasional: | | Asymmetric face (17%) | | Epicanthal folds (39%) | × | Anteverted nares (33%) | × | Cleft lip (39%) | × | Up slanting palpebral fissures (22%) | × | Missing digits (11%) | × | Robin sequence (17%) | | Pointed helix (faun-like ears appearance) | |
|
|