Two brothers with Goldberg-Shprintzen syndrome.
Goldberg-Shprintzen syndrome is a rare autosomal recessive condition that describes the association of Hirschsprung disease with microcephaly, developmental delay and characteristic facies. We describe two brothers from a non-consanguineous family who have classical features of Goldberg-Shprintzen syndrome. The novel findings in this instance are of foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes, which have not been previously described in Goldberg-Shprintzen syndrome.
Murphy
Helen R
HR
Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics Department of Paediatric Surgery, Alder Hey Children's Hospital, Liverpool Department of Psychiatry, Northern General Hospital, Sheffield, UK Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Carver
Melanie J
MJ
Brooks
Alice S
AS
Kenny
Simon E
SE
Ellis
Ian H
IH
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001763:Blepharoptosis / Q000473:pathology; D002648:Child; D002972:Cleft Palate / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D005138:Eyebrows / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005530:Foot Deformities / Q000473:pathology*; D016368:Frameshift Mutation / Q000235:genetics; D006627:Hirschsprung Disease / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D049068:Plagiocephaly, Nonsynostotic / Q000473:pathology; D035781:Siblings; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
C503132:KIFBP protein, human; D009419:Nerve Tissue Proteins