TABLE 1

Clinical Findings in 60 Patients With Deletion 1p36 Syndrome

n%
Dysmorphic craniofacial features
    Microbrachycephaly3965
    Large, late-closing anterior fontanel (N = 39)3077
    Straight eyebrows60100
    Deep-set eyes60100
    Epicanthus3050
    Broad nasal root/bridge60100
    Midface hypoplasia60100
    Posteriorly rotated/low-set/abnormal ears2040
    Long philtrum60100
    Pointed chin60100
Limbs/skeletal defects
    Brachydactyly/camptodactyly4880
    Short feet4880
    Skeletal anomalies (N = 32)1341
Visceral anomalies
    Congenital heart defects (N = 48)3471
    Noncompaction cardiomyopathy (N = 48)1123
    Dilated cardiomyopathy (N = 48)24
    Gastrointestinal anomalies (N = 18)528
    Anal anomalies23
Genitourinary tract defects
    Renal abnormalities (N = 18)422
    Abnormalities of the external genitalia1525
Neurologic findings
    Congenital hypotonia5795
    Seizures2644
    EEG abnormalities (N = 34)34100
    Brain abnormalities (US/CT/MRI) (N = 49)4388
    Eye/vision problems (N = 44)2352
    Visual inattention (N = 44)2864
    Sensorineural deafness (N = 32)928
Developmental findings
    Developmental delay60100
    Mental retardation (formally evaluated)52100
    Expressive language (poor/absent)60100
    Behavior disorders2847
  • The total number of patients equals 60 unless otherwise noted. US indicates ultrasound; CT, computed tomography.