Academic journal article Genetic Counseling

Bardet-Biedl Syndrome in a Preterm Newborn

Academic journal article Genetic Counseling

Bardet-Biedl Syndrome in a Preterm Newborn

Article excerpt

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disease characterized by polydactyly, obesity, learning disabilities, hypogonadism, rod-cone dystrophy, and renal defects (3). We herein report a case involving a preterm newborn with BBS who exhibited postaxial polydactyly and renal abnormalities. The patient also had a brother with BBS.

A male infant was delivered by Caesarean section at gestational age 30 weeks and with a birth weight of 1,000 g. He was the third child of consanguineous parents. Initial examination revealed bilateral postaxial polydactyly of the lower limbs. On the third day, the infant developed hypertension and a progressively increasing serum creatinine level. Abdominal ultrasonography showed multiple cystic lesions on the right kidney. Cranial ultrasonography findings were normal. Echocardiography revealed patent ductus arteriosus and a secundum atrial septal defect. Hearing assessment and fundus examination results were normal. We learned that the patient's brother had been diagnosed with BBS at the age of 12 years and exhibited signs of polydactyly, obesity, and cone dystrophy. Based on the clinical features and sibling history, we diagnosed BBS in our patient.

Polydactyly and structural or functional abnormalities of the kidneys are common in patients with BBS (2). Obesity and rod-cone dystrophy are other major clinical findings. …

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