Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Table 1

Comparison between the clinical features of Dubowitz syndrome, 14q.32 deletion syndrome, and the patient.

Feature	Dubowitz syndrome	14q.32 deletion syndrome	Patient
IUGR	+	+	+
Low birth weight	+	+	+
Microcephaly	+	+	+
Poor feeding	+	+	+
Postnatal growth retardation	+	+	+
High forehead	−	+	+
Ptosis	+	+	+
Blepharophimosis	+	+	+
Telecanthus	+	+	+
Epicanthal folds	+	+	+
Hypertelorism	−	+	−
Asymmetry in eye features	+	Not reported	+
Wide nasal bridge	+	+	+
Round tipped nose	+	+	+
Dysplastic low-set ears	+	+	+
Micrognathia	+	+	+
Palate anomalies	+	+High arched	−
Sparse, light-colored hair	+	Not reported	−
Lateral forehead hypertrichosis	−	+	−
Hypotonia	+	+	+
Mild or moderate developmental delay in 50%	+	+	+
Hyperactivity (in some)	+	Not reported	−
Eczema (~50% cases)	+	Not reported	−
High-pitched, hoarse voice	+	Not reported	+
Syndactyly 2nd and 3rd toes (in some)	+	−	−
Single palmar crease	−	+	−
Clinodactyly	−	+	−
Cryptorchidism, inguinal hernias, and hypospadias in some boys	+	−	−Patient is female