Bardet-Biedl Syndrome (Laurence-Moon Syndrome)

This 8-year-old girl was born with multiple congenital anomalies. Her mother was in good health during the pregnancy. The child had broad, short feet; postaxial polydactyly of the feet bilaterally; brachydactyly of the hands; cystic dysplasia of the kidneys; a single atrium; ventricular septal defect; retinitis pigmentosa; flat nasal bridge; and anteverted nares. The atrial septal defect was repaired when the child was 16 months old. There was no history of consanguinity.

At 8 years of age, the child's weight was 43 kg (5 kg above the 97th percentile); height, 120 cm (10th percentile); and head circumference, 56.5 cm (2.5 cm above the 97th percentile). She had a typical moon-faced appearance. She also had myopia and astigmatism. Her IQ was 80.

The patient has Bardet-Biedl syndrome, which has an autosomal recessive mode of inheritance and is characterized by postaxial polydactyly, pigmentary retinopathy, obesity, mental retardation, and genital hypoplasia. Other features of the syndrome include nystagmus and syndactyly.

The patient's 6-year-old sister also has Bardet-Biedl syndrome with some of the same conditions, including postaxial polydactyly of the feet, brachydactyly of the hands, cystic dysplasia of the kidneys, obesity, mild mental retardation, macrocephaly, retinitis pigmentosa, and atrial septal defect. The condition has an autosomal recessive mode of inheritance.