Table 1.

The summary of the major dysmorphic features and complications

Patients	P1	P2	P3
Growth pattern
Macrosomic birth	−	−	−
Tall stature	−	−	−
Macrocephaly	−	−	−
Overgrowth of hands and feet	+	+	+
Craniofacial features
Occipital prominence	+	+	+
Sparse hair	−	−	−
Narrow frontal hairline	+	+	+
Prominent supraorbital ridge	+	+	+
Thick eyebrows	+	+	+
Synophrys	+	+	−
Downslanting palpebral fissures	+	+	+
Malar flattening	+	+	+
Wide nasal bridge	+	+	+
Large tubular nose	+	+	+
Long philtrum	+	+	+
Thin upper lip	+	+	+
Skeletal features
Progressive thoracolumbar scoliosis	+	+	+
Kyphosis	−	−	+
Bony expansion of the proximal phalanges	−	−	+
Skin findings
Hyperelastic skin	−	−	−
Thin, soft, fragile skin	−	−	−
Lipodystrophy	−	−	−
Café au lait spots	+	−	−
Brain imaging
Posterior fossa enlargement	−	+	−
Periventricular white matter lesions	−	−	−
Sign of the cerebral vasculopathy	−	−	+
Other			Corneal pterygium