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)