TY - JOUR
T1 - Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
AU - Gazzin, Andrea
AU - Carli, Diana
AU - Sirchia, Fabio
AU - Molinatto, Cristina
AU - Cardaropoli, Simona
AU - Palumbo, Giuseppe
AU - Zampino, Giuseppe
AU - Ferrero, Giovanni Battista
AU - Mussa, Alessandro
PY - 2019
Y1 - 2019
N2 - ACKGROUND:
Beckwith-Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood.
METHODS:
34 patients (16 males), aged 18-58 years (mean 28.5) with BWS were enrolled.
RESULTS:
26 patients were molecularly confirmed, 5 tested negative, and 3 were not tested. Final tall stature was present in 44%. Four patients developed Wilms' Tumor (2, 3, 5, and 10 years, respectively); one hepatoblastoma (22 years); one acute lymphoblastic leukemia (21 years); one adrenal adenoma and testicular Sertoli cell tumor (22 and 24 years, respectively); and three benign tumors (hepatic haemangioma, uterine myoma, and mammary fibroepithelioma). Surgery for BWS-related features was required in 85%. Despite surgical correction several patients presented morbidity and sequelae of BWS pediatric issues: pronunciation/swallow difficulties (n = 9) due to macroglossia, painful scoliosis (n = 4) consistent with lateralized overgrowth, recurrent urolithiasis (n = 4), azoospermia (n = 4) likely consequent to cryptorchidism, severe intellectual disability (n = 2) likely related to neonatal asphyxia and diabetes mellitus (n = 1) due to subtotal pancreatectomy for intractable hyperinsulinism. Four patients (two males) had healthy children (three physiologically conceived and one through assisted reproductive technology).
CONCLUSIONS:
Adult health conditions in BWS are mostly consequent to pediatric issues, underlying the preventive role of follow-up strategies in childhood. Malignancy rate observed in early adulthood in this small cohort matches that observed in the first decade of life, cumulatively raising tumor rate in BWS to 20% during the observation period. Further studies are warranted in this direction.
AB - ACKGROUND:
Beckwith-Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype evolution and health issues in adulthood.
METHODS:
34 patients (16 males), aged 18-58 years (mean 28.5) with BWS were enrolled.
RESULTS:
26 patients were molecularly confirmed, 5 tested negative, and 3 were not tested. Final tall stature was present in 44%. Four patients developed Wilms' Tumor (2, 3, 5, and 10 years, respectively); one hepatoblastoma (22 years); one acute lymphoblastic leukemia (21 years); one adrenal adenoma and testicular Sertoli cell tumor (22 and 24 years, respectively); and three benign tumors (hepatic haemangioma, uterine myoma, and mammary fibroepithelioma). Surgery for BWS-related features was required in 85%. Despite surgical correction several patients presented morbidity and sequelae of BWS pediatric issues: pronunciation/swallow difficulties (n = 9) due to macroglossia, painful scoliosis (n = 4) consistent with lateralized overgrowth, recurrent urolithiasis (n = 4), azoospermia (n = 4) likely consequent to cryptorchidism, severe intellectual disability (n = 2) likely related to neonatal asphyxia and diabetes mellitus (n = 1) due to subtotal pancreatectomy for intractable hyperinsulinism. Four patients (two males) had healthy children (three physiologically conceived and one through assisted reproductive technology).
CONCLUSIONS:
Adult health conditions in BWS are mostly consequent to pediatric issues, underlying the preventive role of follow-up strategies in childhood. Malignancy rate observed in early adulthood in this small cohort matches that observed in the first decade of life, cumulatively raising tumor rate in BWS to 20% during the observation period. Further studies are warranted in this direction.
KW - Beckwith-Wiedemann syndrome
KW - adult phenotype
KW - cancer risk
KW - Beckwith-Wiedemann syndrome
KW - adult phenotype
KW - cancer risk
UR - http://hdl.handle.net/10807/148351
U2 - 10.1002/ajmg.a.61301
DO - 10.1002/ajmg.a.61301
M3 - Article
SN - 1552-4825
VL - 179
SP - 1691
EP - 1702
JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
ER -