Clinical features of Bardet‐Biedl syndrome

Abstract

Six patients with Bardet‐Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, Polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.

The Cloning and Developmental Expression of Unconventional Myosin IXA (MYO9A) a Gene in the Bardet–Biedl Syndrome (BBS4) Region at Chromosome 15q22–q23

“…chiron.com. myosin class IX family, myosin IXA (MYO9A). BardetBiedl syndrome is a heterogeneous autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism (Schachat and Maumenee, 1982;Green et al, 1989;Ozer et al, 1995). In addition, affected individuals have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies (Churchill et al, 1981;Harnet et al, 1988;Green et al, 1989;Elbedour et al, 1994).…”

Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

“…In our patient, we discovered a cerebellum arachnoid cyst (rarely reported in literature), a maxillary sinusitis, and an empty sella without any pituitary deficit. The empty sella is also reported by others (26,27). Guran (28) also pointed to pituitary abnormalities such as pituitary hypoplasia; rathke cleft cyst, and tumors.…”

Autism: a rare presentation of Bardet-Biedl syndrome

“…There are also frequent volatile outbursts, inappropriate and disinhibited behaviour, inability to recognise social cues and shallow affect 12. Clinically significant levels of externalising behaviour including aggression and delinquency were rarely reported.…”