Table 1

Clinical features of our case compared to published data

1q32.3-q4221q32-q423,41q32-qter12–151q32.16-42.1*SRS features9,10
* = present case, + = presence of a symptom, − = absence of a symptom, ? = absent or not mentioned.
Young gestational age-2/20/4++
Wide sutures and fontanelles?1/14/4++
Postnatal growth retardation+2/21/1++
Relative macrocephaly-0/22/2++
Prominent/wide forehead-2/23/4++
Downturned mouth corners???++
Triangular face??2/2++
Broad, flat nasal bridge-1/23/4+?
Low set ears/ear anomalies-1/24/4-+
Cryptorchidism/small testes+1/23/3++
Abnormal fingers or toes or both+2/24/4++
Psychomotor/mental retardation+2/22/4++
Spine defects+1/2?++