Growth charts for individuals with Smith–Lemli–Opitz syndrome

Lee, Ryan W.Y.; McGready, John; Conley, Sandra K.; Yanjanin, Nicole M.; Nowaczyk, Małgorzata J.M.; Porter, Forbes D.

doi:10.1002/ajmg.a.35376

Cited by 14 publications

(7 citation statements)

References 24 publications

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“…Weight gain in the normally developed new-born was 20% (from 4 to 7.5 kg), while the weight gain in the SLOS patient was about 10% (from 3.4 to 4.7 kg) ( Table 1). Moreover, the weight gain and growth values were similar to those reported by Lee et al 24 Individuals with this disease are usually found to be below normal developmental stages. 1,2,20,24 Therefore, the development of our patient was below the 3rd percentile.…”

Section: Discussionsupporting

confidence: 87%

“…Moreover, the weight gain and growth values were similar to those reported by Lee et al 24 Individuals with this disease are usually found to be below normal developmental stages. 1,2,20,24 Therefore, the development of our patient was below the 3rd percentile. The increase rate of the maxillary width was greater than the normal patient because an expansion appliance was used.…”

Section: Discussionsupporting

confidence: 87%

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Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Öztürk

Amuk

2019

Cumhuriyet Dental Journal

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Smith-Lemli-Opitz syndrome is a rare syndrome with multiple congenital anomalies after birth and characteristic with mental retardation. Hereditary cholesterol diseases are an autosomal recessive form of metabolic disturbances. There are two types: Type I with mild clinical signs (classical form) and Type II with severe clinical signs. The Type I form with a higher chance of survival is more common. There are typical craniofacial findings such as microcephaly, low-set ears, micrognathia, flattened nasal root and bitemporal narrowing. Cleft palate and/or deep palate enlarged alveolar bones, small-sized tongue and swallowing strength are noticeable mouth-related findings. Patients recover at a certain rate with early medical treatment. Early dental treatments are based on eliminating symptomatic problems. A 3-week-old male patient presented with a deep palate, swallowing difficulty, a problem of nourishment, and SLOS Type I was presented.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 87%

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Öztürk

Amuk

2019

Cumhuriyet Dental Journal

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“…Abnormal gastrointestinal mobility manifesting with recurrent vomiting and reflux, in combination with very selective food intake due to oral sensitivity, with avoidance of specific tastes and textures, likely contributes to poor growth [28]. Specific growth charts have been developed, and individuals should be plotted on these in addition to the regular World Health Organization/Centers for Disease Control and Prevention standardized pediatric growth charts [29]. Constipation can become a severe problem further exacerbating abdominal symptoms.…”

Section: Clinical Phenotypementioning

confidence: 99%

“…Management includes regular physical examinations with special attention paid to growth parameters such as weight, height and head circumference, which ideally should be plotted on SLOS specific charts in addition to standard CDC or WHO charts [29]. In phenotypically female patients with manifestations of a severe phenotype, a karyotype to exclude sex reversal is recommended, and if necessary, subsequent removal of intraabdominal testes.…”

Section: Treatment and Managementmentioning

confidence: 99%

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

Bianconi

Cross

Wassif

et al. 2015

Expert Opinion on Orphan Drugs

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Introduction Smith-Lemli-Opitz Syndrome (SLOS) is a malformation syndrome inherited in an autosomal recessive fashion. It is due to a metabolic defect in the conversion of 7-dehydrocholesterol to cholesterol, which leads to an accumulation of 7-dehydrocholesterol and frequently a deficiency of cholesterol. The syndrome is characterized by typical dysmorphic facial features, multiple malformations, and intellectual disability. Areas covered In this paper we provide an overview of the clinical phenotype and discuss how the manifestations of the syndrome vary depending on the age of the patients. We then explore the underlying biochemical defect and pathophysiological alterations that may contribute to the many disease manifestations. Subsequently we explore the epidemiology and succinctly discuss population genetics as they relate to SLOS. The next section presents the diagnostic possibilities. Thereafter, the treatment and management as is standard of care are presented. Expert opinion Even though the knowledge of the underlying molecular mutations and the biochemical alterations is being rapidly accumulated, there is currently no efficacious therapy addressing neurological dysfunction. We discuss the difficulty of treating this disorder, which manifests as a combination of a malformation syndrome and an inborn error of metabolism. A very important factor in developing new therapies is the need to rigorously establish efficacy in controlled trials.

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“…A betegség súlyosságától függően a testmagasság, testsúly és a fejkörfogat változó mértékben csökkentek a normáltarto-mányhoz viszonyítva [19,28]. Az SLO-szindrómában alkalmazható percentilgörbék már elérhetőek a klinikusok számára [32].…”

Section: A Betegség Természetes Lefolyása éS éLetkori Sajátosságaiunclassified

A koleszterin-bioszintézis veleszületett zavara: a Smith–Lemli–Opitz-szindróma

et al. 2015

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A Smith-Lemli-Opitz-szindróma monogénes, autoszomális recesszív módon öröklődő, mentális retardációval járó többszörös malformatiós szindróma. A kórkép kialakulását a koleszterin-bioszintézis utolsó lépését katalizáló enzim, a 7-dehidrokoleszterin-reduktáz defektusa okozza. A szerzők a nemzetközi irodalom áttekintésével a szindróma patofi ziológiájáról, epidemiológiai vonatkozásairól, klinikai megjelenéséről (tünetek, intellektus, fejlődés, életkori sajá-tosságok), diagnosztikájáról és kezeléséről adnak áttekintést. 2004 óta Magyarországon 14 beteg került felismerésre, amely a becsült incidenciaadatok alapján a kórkép jelentős aluldiagnosztizáltságára utal. A 7-dehidrokoleszterin-reduktáz enzim elégtelen működése miatt a vérben és a szövetekben alacsony koleszterin-és magas 7-dehidrokoleszterin-koncentráció mérhető, amely utóbbi kimutatása szükséges a diagnózis felállításához. Molekuláris genetikai vizsgálattal lehetséges a kóroki mutációk azonosítása és a praenatalis diagnosztika. A klinikai kép rendkívül változatos, a leggyakoribb tünet a 2-3. lábujjak kötőszövetes összenövése. A jelenlegi terápia a koleszterin pótlása, azonban a legújabb eredmények a 7-dehidrokoleszterinből keletkező oxidatív származékok kóroki szerepére utalnak, és ez a megfi gyelés az antioxidánsok potenciális terápiás hatékonyságát veti fel. Orv. Hetil., 2015, 156(42), 1695-1702.

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Growth charts for individuals with Smith–Lemli–Opitz syndrome

Cited by 14 publications

References 24 publications

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Smith-Lemli-Opitz Syndrome (SLOS): Case Report and Symptomatic Treatment

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

A koleszterin-bioszintézis veleszületett zavara: a Smith–Lemli–Opitz-szindróma

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