UNSW Embryology
HEAD AND NECK DEVELOPMENT	Embryology Home Page
PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT
Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Head and Neck Notes List of OMIM search results Pierre Robin Syndrome 311900 PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT table OF CONTENTS   TEXT REFERENCES CREATION DATE EDIT HISTORY CLINICAL SYNOPSIS Database Links Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.   TEXT Gorlin et al. (1970) described a kindred in which multiple males, related through normal females, had this combination. Other possible reports of the syndrome were noted; e.g., Sachtleben (1964) had 2 brothers with cleft palate, congenital heart disease, and clubfoot. In a brief follow-up note, Gorlin et al. (1971) stated that subsequent to the time of report 'two more affected sons have been born to sisters of our proband's mother.' REFERENCES 1. Gorlin, R. J.; Cervenka, J.; Anderson, R. C.; Sauk, J. J.; Bevis, W. D. : Robin's syndrome: a probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am. J. Dis. Child. 119: 176-178, 1970. PubMed ID : 5410571   2. Gorlin, R. J.; Cervenka, J.; Pruzansky, S. : Facial clefting and its syndromes. Birth Defects Orig. Art. Ser. VII(7): 3-49, 1971.   3. Sachtleben, P. : Zur Pathogenese und Therapie des Pierre-Robin-Syndroms. Arch. Kinderheilk. 171: 55-63, 1964.   CLINICAL SYNOPSIS View Clinical Synopsis Entry CREATION DATE Victor A. McKusick : 6/4/1986 EDIT HISTORY mimadm : 2/28/1994 supermim : 3/17/1992 carol : 5/29/1990 supermim : 3/20/1990 ddp : 10/26/1989 marie : 3/25/1988 Back to UNSW Embryology-Head and Neck Notes

m.hill@unsw.edu.au
Date Last Modified: 11/3/99
This site maintained by Dr M. Hill