Table 1.
Summary of main BBS related clinical manifestations and overlapping features
| Family ID | Sex | Age | BMI (kg/m2) | Main clinical features | Minor or secondary clinical features | Others | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RP | PD | Ob | HG | RD | ID | DD | BD | SYN | MY | AST | Str | HAP | SLI | MC | BC | PF | |||||
| DM1564 | F | 10 yrs | 22.1 | + | + | ND | + | ND | ND | ND | − | − | + | − | + | + | − | − | − | − | LD |
| DM1565 | F | 29 yrs | 36.2 | + | + | + | + | + | ND | ND | + | − | + | − | − | − | − | − | + | + | DM, HCL, HH, PCOS SS,HT |
| DM1566 | M | 15 yrs | 32.4 | + | + | + | + | + | mild | + | + | − | + | + | + | − | − | − | + | + | CTEV, ROM, HTG, XN, PP |
| DM1567 | M | 5 yrs | 17.4 | ND | + | ND | + | ND | severe | + | − | − | − | − | − | − | − | − | + | − | Atx, BA, AT, VI, XN, MG, CD, Sn |
| DM1568 | F | 6 yrs | 24.7 | ND | + | + | + | ND | moderate | + | + | + | − | − | + | − | + | − | − | + | S, SVT, HD, BA, AT |
| DM1569 | F | 6 yrs | 31.7 | + | + | + | + | ND | severe | − | + | + | − | − | − | − | − | + | − | − | PMA, BA, XN |
| DM1570 | F | 39 yrs | 52.7 | + | + | + | + | + | moderate | ND | − | + | + | + | + | − | − | − | − | − | HF, HT, DM, NYS, PC |
| DM1571 | F | 42 yrs | 36.4 | + | + | + | + | + | ND | + | − | − | + | − | + | − | − | − | + | − | DBA, ONA, HT, SS, PCOS |
| DM1572 | M | 18 yrs | 35.3 | − | + | + | + | ND | moderate | + | − | + | − | − | − | − | − | − | − | − | HH, ASD, RTG, Sn, BA |
| DM1573–1 | M | 21 yrs | 37 | + | − | + | + | ND | moderate | + | + | + | − | − | − | − | − | + | + | − | T2DM, FL, HT |
| DM1573–2 | F | 16 yrs | 54.7 | + | + | + | ND | ND | severe | + | + | − | − | − | − | − | − | + | − | + | BA, HT, T2DM, HTG, HCM, FL |
| DM1574 | M | 20 yrs | 34.9 | + | + | + | + | + | moderate | + | − | − | + | + | − | − | + | − | − | − | HT, HCL, HTG, FL |
| DM1575 | F | 8 yrs | 30.4 | + | + | + | − | ND | severe | + | − | − | − | − | − | − | + | + | − | + | BA, FL, HM, VSD, Atx |
| DM1576 | M | 16 yrs | 31.9 | + | − | + | + | ND | mild | ND | − | − | − | − | − | + | − | + | − | + | FL, SL |
| DM1582 | M | 33 yrs | 34.7 | + | − | + | + | + | mild | + | − | − | − | − | − | − | − | − | − | − | LD, HCL, FL, CTEV |
| DM1583 | F | 15 yrs | 27 | + | + | + | + | + | mild | + | − | + | + | + | + | + | + | − | + | + | HT, ASD |
| DM1584 | M | 7 yrs | 24.2 | + | + | + | + | ND | mild | − | + | − | − | − | − | − | + | − | − | + | HM, HTG |
| DM1585 | F | 7 yrs | 22.6 | + | + | + | + | ND | severe | + | + | − | − | − | − | − | − | − | + | + | Cat, VI |
| DM1586 | F | 13 yrs | 33.4 | + | + | + | ND | + | moderate | + | − | + | − | − | − | − | − | + | − | + | − |
| DM1587 | F | 2 mo | − | ND | + | + | + | + | ND | − | − | − | − | − | − | + | − | + | + | + | IH |
| DM1588 | F | 13 yrs | 28.1 | + | + | + | + | + | moderate | − | − | − | − | − | − | + | − | − | − | − | AN, VI, PMD |
| DM1589 | M | 3 yrs | 29.5 | ND | + | ND | + | ND | moderate | − | − | − | − | − | − | − | − | − | − | − | VI, PMD |
| DM1590 | F | 5 yrs | 31,2 | ND | + | + | + | + | mild | − | − | − | − | − | − | + | + | + | − | + | CVA, PF, PMA, HTG, HCL |
| DM1591 | F | 2 mo | − | ND | + | ND | + | + | ND | − | − | − | − | − | − | + | − | − | − | + | CVA, UTIs, RRIs |
Phenotypes are indicated as present (+) and absent (−). ND indicates no data available, or subject was not evaluated. ASD, atrial septal defect; AST, astigmatism; AT, autistic trait; Atx, ataxic gait; AN, acantosis nigricans; BA, behavior abnormalities; BC, brachycephaly; BD, brachydactyly; BMI, body mass index; Cat, cataract; CD, clinodactyly; CTEV, congenital talipes equinovarus; CVA, congenital vaginal atresia; DBA, delayed bone age; DD, developmental delay; DM, diabetes mellitus; T2DM, diabetes mellitus type 2; FL, fatty liver; F, female; HAP, high arch palate; HCL, hypercholesterolemia; HD, hypodontia; HF, hepatic fibrosis; HG, hypogonadism; HH, hepatic hemangioma; HM, hepatomegaly; HT, hypothyroidism; HTG, hypertriglyceridemia; ID, intellectual disability; IH, imperforate hymen; HCM, hypertrophic cardiomyopathy; LD, learning difficulties; MC, macrocephaly; M, male; MG, micrognathia; mo, months; MY, myopia; NYS, nystagmus; Ob, obesity; ONA, optic nerve atrophy; PC, presbycusis; PCOS, polycystic ovaries; PD, polydactyly; PF, down slated palpebral fissures; PMA, psychomotor hyperactivity/agitation; PMD, psychomotor delay; PP, puberphonia; RD, renal disorder; ROM, recurrent otitis media; RP, retinitis pigmentosa; RRIs, recurrent respiratory infections; RTG, retrognathia; SL, skin lesions; SLI, speech and language impairment; Sn, synophrys; SS, short stature; Str, strabismus; SYN, syndactyly; UTIs, recurrent urinary tract infections; VI, vision impairment; VSD, ventricular septal defect; XN, night blindness; yrs, years.