Table 1 Summary of clinical findings and molecular diagnose
P1 | P2 | P3 | |
|---|---|---|---|
Gender | F | M | F |
Gene And Mutations | NIPBL c.4321-1G > A | NIPBL c.218C > A | CREBBP c.1715delC |
RefSeq | NM_133433 | NM_133433 | NM_004380 |
Origin | De nove | De nove | De nove |
Weight at birth | 2.85 kg | 2.57 kg | U |
Age at test | 1 years | 2 years | 9 years |
Weight at test | 5 kg | 7 kg | 21 kg |
Head circumference at test | 40 cm | 40 cm | 51 cm |
Height at test | 65 cm | 73 cm | 110 cm |
Growth retardation | Severe | Severe | Light |
Intellectual disability | + | + | + |
Speech delay | U | + | + |
Arched eyebrows/Synophrys | +/+ | +/− | +/+ |
Long eyelashes | + | + | + |
Strabismus | – | – | + |
Low set ears | + | – | – |
Broad or Depressed nasal bridge/Anteverted nostrils | +/+ | +/+ | +/− |
long philtrum | + | + | – |
Teeth hypoplasia | U | – | + |
Laryngeal cartilage dysplasia | – | + | + |
Finger or toe deformity | + | + | + |
Hirsutism | – | – | + |
Cryptorchidism | – | + | – |
Chromosomekaryotype | 46,XX | 46,XY | 46,XX |
CNV-seq | – | – | – |