Only approximately 10 postnatal-onset obesity syndromes have been identified (Amer J Med Genet 47:820, 93) and none of these are associated with hypertrichosis. An unrelated 14-year-old male (case 1) and 8-year-old female(case 2) are presented with obesity, hypertrichosis, characteristic facies, joint hyperextensibility, and psychomotor retardation. The gestations were normal except for maternal hypertension, decreased fetal activity (case 2), and cesarean deliveries. Prenatal growth parameters were normal. Apnea in the female (case 2) was the only neonatal problem. Both children had psychomotor delay and onset of obesity by 2 years of age. The male (case 1) had bilateral inguinal hernias repaired and a bladder hydrocele while the female (case 2) had several bouts of glomerulonephritis. The male (case 1) had a febrile seizure at 22 months and both children had hypotonia. Physical exam revealed the following shared features: obesity, hypertrichosis of the forehead, lateral face, eyelashes/eyebrows (with synophrys), and body with right subpatellar patch of hair in the male, downslanted eyes, borderline hypertelorism and dystopia canthorum, full nasal tip with short columella, inverted v-shaped mouth with cupid bow corners, hyperextensible fingers and major joints, and pleasant personalities. Chromosome studies were normal in both children.

Pavone et al. (Clin Dysmorphol 5:223, 96) published a 17-year-old male who has a number of features in common with those presented above. Their case, however, had significant brachydactyly, small dyschromic nails and more severe hypertrichosis plus he lacked joint hyperextensibility. I propose that my 2 patients represent a unique and rare syndrome that is similar, but not identical to the case reported by Pavone et al.