Birth weight is typically normal but significant weight gain beigns within the first year. Renal disease is a major cause of morbidity and mortality. There is considerable interfamilial and intrafamilial variability in the clinical presentation. [dnatesting.uchicago.edu]

Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. [rarediseases.org]

Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. [ghr.nlm.nih.gov]

Hyperphagia Hyperphagia due to insatiable appetite may lead to life-threatening weight gain, or may lead to stomach necrosis and rupture. Weight gain may be very rapid and occur even on a low-calorie diet. [medicalhomeportal.org]

Bardet-Biedl is a syndrome (set of related attributes) caused by a genetic mutation and characterized by the eye condition known as cone-rod dystrophy, in addition to a variety of features that may include abnormal weight gain in the trunk (and related [familyconnect.org]

Since the age of 1 month, she presented recurrent respiratory infections and bronchiolitis, leading to the diagnosis of infantile asthma. She also presented recurrent ENT infections and benefited from adenoidectomy and myringotomy. [karger.com]

The neonatal period was complicated with respiratory insufficiency (the child was intubated on the first day of life and stayed on mechanical ventilation for nine days) and a generalized infection with staphylococci. [omicsonline.org]

During hospitalization a renal insufficiency was detected, along with ionic disorders and a tachycardia of atrial origin. [omicsonline.org]

She exhibited dysmorphic features, including an upslanted palpebral fissure, hypertelorism, pointed chin and high arched palate as well as postaxial polydactyly of the right hand and left foot, polycystic kidneys and an atrial septum defect that was closed [nature.com]

She exhibited daily emotional outbreaks and sleep disturbances that required some sedative drugs, such as carbamazepine, cyproheptadine and risperidone, since early childhood. [nature.com]

A speech examination identified congenital developmental dysphasia caused by endogenic factors. The girl had a perceptive-expressive disorder with a speech development delay. [omicsonline.org]

During the subsequent diagnosis a 2 nd grade virilisation of genital organs was observed: clitoromegaly, an urogenital sinus, and hydrocolpos. For this reason urine steroid profile was analysed, which excluded blocks of adrenal steroidogenesis. [omicsonline.org]

It is caused by the distension of the uterine cavity and the vagina due to an accumulation of cervical gland secretions stimulated by maternal and placental estrogen in the presence of the vaginal septation or atresia or an imperforate hymen [ 6, 16 ] [omicsonline.org]

When it became clear that BBS genes code for proteins implicated in cilia assembly or function, 12 comparison of sequenced genomes allowed selection of candidate genes that have orthologs in ciliated organisms (vertebrates, drosophila, C. elegans, chlamydia [doi.org]

lamblia, an organism that does not contain well-conserved orthologs to known BBS genes. 13 This combination of homozygosity mapping and comparative genomics allowed the identification of BBS3, BBS5 and BBS9. 5, 6, 8, 13 Single sibship consanguineous [doi.org]