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Literature DB >> 166525

Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

Abstract

This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.

Entities: Disease

Mesh：

Year: 1975 PMID： 166525 DOI： 10.1007/bf00443506

Source DB: PubMed Journal: Z Kinderheilkd ISSN： 0044-2917

30 in total

1. Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

Authors: L Dallaire
Journal: J Med Genet Date: 1969-06 Impact factor: 6.318

2. Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome.

Authors: S C Park; C F Needles; I Dimich; L Sussman
Journal: J Pediatr Date: 1968-12 Impact factor: 4.406

3. Smith-Lemli-Optiz syndrome in a 23-year-old man.

Authors: J G Deaton; L O Mendoza
Journal: Arch Intern Med Date: 1973-09

4. The Smith-Lemli-Opitz syndrome.

Authors: C G Judge; J E Chakanovskis; G R Sutherland
Journal: Med J Aust Date: 1971-07-17 Impact factor: 7.738

5. The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy.

Authors: J E Chakanovskis; G R Sutherland
Journal: J Ment Defic Res Date: 1971-09

6. [Smith-Lemli-Opitz syndrome (case report)].

Authors: P L Patriarca; S Manzia
Journal: Minerva Pediatr Date: 1972-05-05 Impact factor: 1.312

7. Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome.

Authors: S C Finley; W H Finley; D B Monsky
Journal: J Pediatr Date: 1969-10 Impact factor: 4.406

8. [Ullrich-Feichtiger's syndrome].

Authors: J Kunze
Journal: Arch Kinderheilkd Date: 1969-07

9. Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings.

Authors: C A Garcia; P A McGarry; M Voirol; C Duncan
Journal: Dev Med Child Neurol Date: 1973-02 Impact factor: 5.449

10. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings.

Authors: H R Blair; J K Martin
Journal: J Pediatr Date: 1966-09 Impact factor: 4.406

7 in total

Review 1. The Smith-Lemli-Opitz syndrome.

Authors: R I Kelley; R C Hennekam
Journal: J Med Genet Date: 2000-05 Impact factor: 6.318

Smith-Lemli-Opitz syndrome: review and report of two affected siblings.

1. Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

2. Congenital heart disease in an infant with the Smith-Lemli-Opitz syndrome.

3. Smith-Lemli-Optiz syndrome in a 23-year-old man.

4. The Smith-Lemli-Opitz syndrome.

5. The Smith-Lemli-Opitz syndrome in a profoundly retarded epileptic boy.

6. [Smith-Lemli-Opitz syndrome (case report)].

7. Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome.

8. [Ullrich-Feichtiger's syndrome].

9. Neurological involvement in the Smith-Lemli-Opitz syndrome: clinical and neuropathological findings.

10. A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings.

Review 1. The Smith-Lemli-Opitz syndrome.

2. De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

3. The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.

4. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Review 5. Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

6. An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

7. Auditory phenotype of Smith-Lemli-Opitz syndrome.