Fig. 1.

The characteristic phenotype of the chromosome 1q44 deletion. (A) At 4 months of age microcephaly, sparse and fine hair, a round face, pinpoint dimple on the midline of the forehead, flat nasal bridge, short and broad nose, hypoplastic nares, smooth and long philtrum, thin vermilion borders, a well formed 'cupid's bow' mouth with downturned corners, and short webbed neck were noted. Hypoplastic low-set ears with a transverse groove on the lobule and a pinpoint pit on the limb of the helix of the right ear, a supernumerary nipple on the right axillary side, polydactyly of the right foot, and simian creases on both hands were additionally noted. (B) At 2 years and 2 months of age, the patient's face was expressionless and had a dull appearance with severe growth and psychomotor retardation.