Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference8 articles.
1. A newly recognized syndrome of multiple congenital anomalies;Smith;J Pediatr,1964
2. Smith-Lemli-Opitz syndrome: Review and report of two affected siblings;Johnson;Z Kinderheilkd,1975
3. Postlenticular membrane associated with Smith-Lemli-Opitz syndrome;Freedman;Am J Ophthalmol,1979
4. Micrognathia, polydactyly, and cleft palate;Lowry;J Pediatr,1968
5. Genetic heterogeneity and recurrence risk of congenital intestinal aganglionosis;Passarge;Brith Defects,1972
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1. Brain size reductions associated with endothelin B receptor mutation, a cause of Hirschsprung’s disease;BMC Neuroscience;2021-06-19
2. A Case of Smith Lemli Opitz Syndrome Diagnosed with Hypertrophıc Ploric Stenosis;SiSli Etfal Hastanesi Tip Bulteni / The Medical Bulletin of Sisli Hospital;2020
3. Congenital Anomalies and Genetic Associations in Hirschsprung’s Disease;Hirschsprung's Disease and Allied Disorders;2019
4. Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation;International Journal of Neonatal Screening;2017-08-30
5. Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas;Case Reports in Pediatrics;2014
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