Table 1.

Summary of clinical data of ten Chinese WHS patients

Characteristics	Patient number
	1	2	3	4	5	6	7	8[10]*	9[10]*	10[10]*
Gender	Male	Male	Female	Male	Female	Female	Female	Male	Female	Female
Age	14 months	56 months	39 months	4 months	81 months	6 days	37 months	14 months	30 months	42 months
IUGR	+	+	+	−	+	+	−	−	−	−
Hypotonia	−	+	+	+	+	+	+	+	+	+
Postnatal growth delay	<P3	<P3	<P10	<P3	<P3	<P3	<P3	<P10	<P3	<P3
High or broad forehead	+	+	+	+	+	+	+	+	+	+
Prominent glabella	+	+	+	+	+	+	+	+	+	+
Hypertelorism	+	+	+	+	+	+	+	+	+	+
Prominent or slanting eyes	+	−	+	+	+	+/−	+	+	+/−	+
High arched eyebrows	+	+	+	+	+	+/−	+	+	+	+
Broad nasal bridge	+	+	+	+	+	+	+	+	+	+
Short philtrum	+	+	+	+	+	+	+	−	+	+
Distinct mouth	+	+/−	+	−	+/−	+/−	+	−	+	+
Micrognathia	+	−	−	−	−	+	+	−	−	+
Dysplastic ears	−	−	−	−	−	−	−	+	−	+
Cleft lip and/palate	−	−	+	−	+	−	−	−	−	−
Congenital heart defect	PS	−	ASD	ASD	−	−	PS	ASD	NI	NI
Intellectual disability	Mild	Moderate	Moderate	Moderate	Severe	−	Severe	Moderate	Moderate	Moderate
Epilepsy/EEG anomalies	+	+	+	−	+	−	+	+	+	+
Motor developmental delay	+	+	+	+	+	+	+	+	+	+
Feeding difficulties	−	+	−	−	−	−	−	+	+	−
Renal abnormalities	−	−	−	−	−	+	−	−	−	−
Skeletal anomalies	−	+	−	−	−	−	−	−	−	−

*Array CGH test results were not available for patient 8, 9, or 10. The deletion sizes were determined mainly by MLPA by calculating the distances between probes. P3 and P10 stand for the 3^rd and 10^th percentile length/height for age. IUGR: Intrauterine growth restriction; PS: Pulmonary stenosis; ASD: Atrial septal defect; NI: Not investigated; +: Positive; −: Negative; WHS: Wolf-Hirschhorn syndrome; EEG: Electroencephalogram; CGH: Comparative genomic hybridization; MLPA: Multiplex ligation-dependent probe amplification.