Table 1 Comparison of Cri du chat clinical features among our case and others previously published (modified in part by [9])
Clinical features | Our case report | Elmakky et al. [9] | Van Buggenhout et al [8] | Rossi et al. [7] | Zhang et al. (2005) | Gersh et al. (1995) | Church et al. [11] | Cornish et al. (1999) | Kondoh et al. (2005) | Laczmanska et al (2006) | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
III:1 | III:2 | III:3 | III:4 | III:5 | Pt n°7 | 1 Patient | Pt n°117 | Family 3 2 Patients | Family 4 4 Patients | 5 Patients | 4 Patients | Patient n°3 | 1 Patient | ||
Chromosomal Anomaly | arr 5p15.33p15.32(113576-4612673)×1,17p13.3(525-3071665)×3 | Der(5)t(5;15)(p15.3q11.1-2) with microdeletion involving 5p15.33-32 | del(5)(p15.31) | del(5)(p15.3) | |||||||||||
Age | 6y | 7y | 24 m | 24 m | 34y | 58y | 18y | 35y | Nd | Nd | Nd | Nd | 6-49y | 6y | 8d |
Low birth weight | Nd | – | – | – | – | – | + | Nd | Nd | 0/2 | 1/4 | 1/4 | Nd | – | – |
Growth retardation | Nd | + | + | + | + | – | – | – | Nd | 0/2 | 1/4 | 1/4 | Nd | + | Nd |
Cat-like cry/high-pitched voice | + | + | + | + | + | + | + | + | + | 2/2 | 3/4 | 3/4 | 0/5 | – | + |
Speech delay | + | – | – | – | – | – | – | + | + | 0/2 | 0/4 | 0/4 | 5/5 | Nd | Nd |
ID | + | – | – | – | – | – | – | Mild | Mild | 0/2 | 2/4 Mild | 3/5 Mild | 3/5 Mild | – | Nd |
Motor delay | + | – | – | – | – | – | + | Nd | Nd | 0/2 | Nd | Nd | Nd | Nd | Nd |
Neonatal hypotonia | – | – | + | + | – | Nd | + | Nd | Nd | 0/2 | 1/4 | Nd | Nd | – | – |
Microcephaly | – | + | + | + | + | + | – | – | – | 0/2 | 1/4 | 1/5 | 1/5 | – | – |
Dysmorphisms in childhood | + | Y | Y | Y | Nd | Nd | Y | Nd | N | Y/nd | N | N | N | N | Y |
Small round face | – | + | + | + | + | – | + | ||||||||
Higly arched eyebrows | – | + | + | + | – | – | – | ||||||||
Synophris | + | + | + | + | – | – | – | ||||||||
Hypertelorism | + | – | – | – | + | – | – | ||||||||
Epicanthal folds | – | + | + | + | + | + | – | ||||||||
Strabismus | – | + | – | + | + | – | |||||||||
Low set ears | + | – | – | – | – | + | + | ||||||||
Thin upper lip | + | + | + | + | – | – | – | ||||||||
Pointed chin | – | + | + | + | + | – | – | ||||||||
Single palmar creases | – | + | + | + | + | + | – | ||||||||
Disrmorphisms in adult | Nd | Nd | Nd | Nd | Y | Nd | Y | Y | N | Nd/N | N | N | N (1patient) | Nd | Nd |
Others | clynodactily, hypothyroidism at birth | Flat feet | Hypospadia | Oligospermia | Flat feet | Metacarpals4-5th short, flat feet | Kydney Hypoplasia, azoospermia | Hypoacusis, preauricle skin tags | Cardiopathy, flat feet | ||||||