Herein, We Report A Case of A 12-Year old Female With Clinical Manifestations of Laurence-Moon-Bardet-Biedl Syndrome (LMBBS). She Has Visual and Speech Impairment Who Is the First Child of The Family. She Had Also Variations In Clinical Laboratory Tests In Her Clinical Evaluations. Renal Failure and Obesity Were Significantly Reported to Her. She Already Lives and Has Learning Disabilities and School Skills Because Her Mental Retard.     

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive inheritance disease and genetic heterogeneity, results of consanguineous marriage. Some of sign and symptoms to this disorders which are congenital ciliopathy manifesting with primary and secondary characteristics. However functional and morphological abnormalities are observed. Laurence-Moon syndrome (LNMS) is a rare genetic disease that results in a complex association of difficulties with functions that affect several different parts of bodies such brain, eyes, ears, stomach, kidneys, and skeletal organs. However, this disease is characterized by progressive blindness, obesity, and learning disabilities, and organ abnormalities. Especially in our community genetic counseling just plays a specific role about the potential genetic diseases in consanguineous marriage. [1-15].

A 12-year-old female patient with visual and speech impairment who is the first child of the family and is obese with physical appearance. Nearby she has impaired lying knee joints and impaired gait. She had hyperkalemia, hypocalcaemia and mild anemia with increased platelet when she refereed. She lives not only under the surveillance of a physiotherapist and but also needs care with impaired concentration and learning. His parents are far from the conditions of consanguineous marriage. However her parents have done genetic counseling. In genetic tests, molecular PCR genetic and cellular tests have been done for each of them too. She suffers from some failures and has chronic renal failure from birth. 80% of her kidneys have damaged. So attending to renal failure progresses, hereby according to chronic polycystic renal failure and renal erythropoietin products decline so the anemia was ever reported due clinical laboratory studies. However, kidney transplantation will be required. The child is studying in exceptional school and has stuttering. And she goes to speech therapy classes. Specialists physicians prescribe to her treatment choice drugs such hydrochlorothiazide, allopurinol, calcium carbonate, clostriol, metformin and gemfibrozil. During the hospitalization of the child in the Tabriz/Iran children's hospital and examinations of urologists and blood specialist and performing renal sonography, so according to doing repeated detail clinical laboratory tests and blood gas tests and other molecular PCR and cellular genetic tests the Laurence Moon Bardet-biedl syndrome are probably considered for this case report. [16-22] .

This disease was reported the communities with poor genetic counseling facilities. Laurence-Moon-Bardet-Biedl syndrome(LMBBS) is a rare autosomal recessive inheritance disorder and genetic heterogeneity disease. Primary clinical features include dystrophies, polydactyly, central abdominal obesity, kidney abnormalities, polyuria/polydipsia, hypertension, hormonal and hypogonadism abnormalities, and mental retardation, often with poor schooling skills. Secondary clinical features include developmental delay, Anemia, speech deficit, syndactyly, dental defects, ataxia, diabetes mellitus (D2M), and congenital heart defects, learning disabilities, night blindness, retinitis pigmentosa, dwarfism, deformities of the skull, left ventricular hypertrophy, hepatic fibrosis, spasticity, hearing loss, deafness, strabismus, nystagmus, osteoarthritis, hypogonadism, polysyndactyly, and obesity. Because of the high incidence of Laurence moon biedl syndrome involved between family marriages, so genetic counseling and screening the other members of the patient families are required.[1-15].

Laurence-Moon syndrome (LMS) predominantly included with spasticity and distal muscle weakness which is an autosomal recessive genetic heterogeneity disease that has a complex systemic involvement too and it is considered a major differential diagnosis. In this case report patient suffers from renal failure so kidney graft is recommended to her treatment. Therefore, genetic counseling of pre marriage and before pregnancy decision are also necessary for every family affected females. Nowadays modalities of treatment such as gene therapy and targeted therapy are recommended to these diseases.                                                                                     

We acknowledge that all disable patients to participation of them in this study. We have special thanks from all clinics of welfare organization. We are grateful from prevention department of Tabriz/Iran welfare organization to financial support of this study.