A Case of Laurence-Moon-Biedl Syndrome / 대한소아소화기영양학회지

Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by obesity, hypogenitalism, polydactyly, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by renal anomaly, nystagmus, cataract, syndactyly, microcephaly, oxycephaly and congenital heart disease. Recently, we have experienced a 8-year-old female patient who has retinitis pigmentosa, obesity, and polydactyly. We report a case of Laurence-Moon-Biedl syndrome with a review of literature.

Childhood obesity: referred cases to a tertiary health center in riyad, Saudi Arabia

To show the pattern of etiology of childhood obesity referred to our endocrinology clinic between December 1989 and December 1994. Subject and All the children referred to our clinic at the above stipulated dates were studied. This is a retrospective medical records review of these patients. The patient's height and weight were measured by trained staff of the clinic. The Quetelet index also known as Body Mass Index [BMI] was calculated as weight [kg]/ height [m]2 for each patient. Laboratory data as well as results of clinical investigations were also obtained from the records of the patients. 52 patients with ages ranging between 2 years and 16 years [median 8 years] were studied. Male: female ratio was 1:1.35 [67.3%] of the patients were Saudis while 17 [32.7%] were non-Saudis. The etiology of obesity among the series were nutritional 46 [88.5%], Prader-Willi Syndrome 3 [5.8%], Laurence-Moon-Biedl Syndrome that the majority of the patients had simple nutritional obesity

Bardet-biedl syndrome: clinical, endocrinological and imaging evaluation of three unrelated Bedouin children

Bardet-Biedl syndrome [BBS] is a heterogeneous disorder; clinical dissimilarities do exist among patients. Cases of BBS have been reported with hypertension, diabetes mellitus and renal disease, while others were reported with hepatic disease. Here, we are reporting 3 newly diagnosed unrelated Bedouin children, evaluated for the presence of an endocrine disorder. Our patients were 2 males and 1 female. These patients are obese with a voracious appetite, postaxial polydactyly and mentally retarded. Pigmentary retinopathy was found in the older children and hypogenitalism is apparent in the older male child who is also hypertensive. The clinical, endocrinological and imaging evaluation data are compared with previously published cases. Also, phenotypic variability and genetic heterogeneity of BBS pleiotropic gene are briefly discussed. The results of hormonal studies in our cases showed no endocrinological dysfunction, except for the presence of hypogonadism. Although no specific treatment is available, an early evaluation of BBS cases can be the first step in initiating symptomatic management and preventive measures for the patient and the family

Síndrome de Laurence-Moon-Biedl / Laurence-Moon-Biedl syndrome

Os autores apresentam um caso de síndrome de Laurence-Moon-Biedl (síndrome de LMB), destacando a sua raridade e descrevendo suas principais manifestaçoes, com aspectos encontrados à fundoscopia, além de sua associaçao incomum com a diabetes mellitus.

The Laurence-Moon-Biedl Syndrome in a Family

Laurence-Moon-Biedl syndrome is a rare inherited disorder and its common findings include pigmentary retinal degeneration, obesity, hypogonadism, mental retardation and digital anomaly. Recently, the authors experienced two cases of Laurence-Moon-Biedl syndrome in a family of 15 year-old male and 17 year-old female. In our cases, the male patient showed syndactyly and polydactyly, chorioretinal degeneration, hypogonadism and female patient showed polydactyly, chorioretinal degeneration, hypogonadism, obesity and mental retardation.

A Case of Laurence-Moon-Biedl Syndrome

Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.

A Case of Laurence-Moon-Biedl Syndrome

Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.

A Case of Laurence-Moon-Biedl Syndrome Including Diabetic Mellitus

No abstract available.

A Case of Laurence-Moon-Biedl Syndrome Including Diabetic Mellitus

No abstract available.

Síndrome de Laurence-Moon-Biedl associada a doença de Blount: relato de um caso / Laurence-Moon-Biedl syndrome associated with Blount's disease: report of a case

Apresenta-se o caso de uma paciente de 14 anos portadora da Sindrome de Laurence-Moon-Biedl associada a doença de Blount. Näo há na literatura relatos anteriores de associaçäo entre estas duas doenças