Table 1

Clinical findings of the BBS patients in the present study (heterozygous PEI (1) (p36.3q23))

Clinical findingProband III.6Proband’s sibsProband’s cousins
III.3III.8III.10III.11III.12
Age11 y17 y4 mth5 y3 y1 y
SexFFMFMF
Obesity++?+++
Bilateral hexadactyly
 Hands++++++++++++
 Feet+L+++++L+R++
Mental retardation++?+??
Pigmentary retinopathy+Blind?++?
Nystagmus+
Hypogonadism????+?
Renal anomalies1-150 Atrophied left kidney
Cardiac defects VSDVSD
Hirsutism++
  • ? = not assessed, L = left side, R = right side, + = present, − = absent.

  • 1-150 Diagnosed by abdominal ultrasonography. Diagnosed by echocardiography. Under 2 years of age it is difficult to evaluate night blindness, and developmental delay is usually mild so that the diagnosis is based on the existence of polydactyly.14