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- Title
The Smith-Lemli-Opitz Syndrome.
- Authors
AkI, Kamal F.; Khudr, Gabriel S.; der Kaloustian, Vazken M.; Najjar, Samir S.
- Abstract
The article presents a case study on the disease of the Smith-Lemli-Opitz syndrome. It is a syndrome consisting of mental retardation, microcephaly, retarded growth, abnormal faces with maneuvered nostrils, micrognathia, broad alveolar ridges, ambiguous genitalia and abnormal dermatoglyphic patterns. The autopsy showed renal hypoplasia with bilateral focal tetial dysplasia. Hypoplastic kidneys demonstrated by intravenous pyelography have been reported in this syndrome. It was concluded that since the parents of the patient were first cousins there is an autosomal recessive pattern of inheritance.
- Subjects
SYNDROMES; DYSPLASIA; URINARY organs; AUTOPSY; DEVELOPMENTAL disabilities; INTELLECTUAL disabilities
- Publication
Clinical Pediatrics, 1977, Vol 16, Issue 7, p665
- ISSN
0009-9228
- Publication type
Article
- DOI
10.1177/000992287701600717