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Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former
- Source :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 6(3)
- Publication Year :
- 2002
-
Abstract
- We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RM-CAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd–3rd toes and left 5th–6th toes, right talipes varus and left talipes valgus, and fused L5–S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 ± 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.
- Subjects :
- Microcephaly
Pathology
medicine.medical_specialty
Multiple congenital anomaly
Dwarfism
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
Dehydrocholesterols
Fatal Outcome
Medicine
Humans
Multiple abnormalities
030219 obstetrics & reproductive medicine
business.industry
Infant, Newborn
General Medicine
medicine.disease
Smith-Lemli-Opitz Syndrome
Liver
Smith–Lemli–Opitz syndrome
030220 oncology & carcinogenesis
Pediatrics, Perinatology and Child Health
Female
Abnormality
business
Subjects
Details
- ISSN :
- 10935266
- Volume :
- 6
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
- Accession number :
- edsair.doi.dedup.....b27618dd824cdbaf6f34acee317fb323