نتایج جستجو برای: beckwith wiedimann syndrome
تعداد نتایج: 622113 فیلتر نتایج به سال:
We present the prenatal ultrasound findings of massive macroglossia in a fetus with prenatally diagnosed Beckwith-Wiedemann syndrome. Three-dimensional surface mode ultrasound was utilized for enhanced visualization of the macroglossia.
A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.
A pair of monozygotic twins discordant for Wiedemann-Beckwith syndrome is described. The probability of monozygosity is 0.995. This observation suggests that the syndrome is unlikely to be under single gene control and genetic counselling should be based on multifactorial inheritance.
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.
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