Clinical characteristics | Bhat et al1 | Quack et al4 | Present case |
---|---|---|---|
Adaptation from Bhat et al.1 | |||
NR = not reported. | |||
Aneusomic segment | q13.3-q13.4 | q11.05-q13.2 | q13.1-13.3 |
Low birth weight | + | – | – |
Growth retardation | + | – | – |
Psychomotor retardation | + | + | + |
Flat facies | + | – | – |
Downturned mouth | + | + | – |
Abnormal ear | + | + | – |
Short neck with excess skin fold | + | NR | – |
Congenital heart malformations | + | – | – |
Congenital hip dislocation | + | – | – |
Joint stiffness and flexion contractures | – | – | – |