Goldberg-Shprintzen syndrome: Report of a new family and review of the literature

Clinical Dysmorphology

Volumn 7, Issue 2, 1998, Pages 97-101

  Fryer, A E ^a  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Autosomal recessive inheritance; Goldberg Shprintzen syndrome; Hirschsprung disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CLEFT PALATE; FACIES; FAMILY STUDY; FEMALE; GOLDBERG SHPRINTZEN SYNDROME; HIRSCHSPRUNG DISEASE; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CLEFT PALATE; FACE; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HIRSCHSPRUNG DISEASE; HUMANS; MENTAL RETARDATION; MICROCEPHALY; PHENOTYPE; SYNDROME;

EID: 0031896469     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199804000-00003     Document Type: Article

References (10)

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3. Brunoni D, Joffe R, Farah LMS, Cunha AJB (1983). Hirschsprung megacolon, cleft lip and palate, mental retardation and minor congenital malformation. J Clin Dysmorphol 1:20-22.
4. Goldberg RB, Shprintzen RJ (1981). Hirschsprung megacolon and cleft palate in two sibs. J Crania Gen Dev Biol 1: 185-189.
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9. Webb GC, Keith CG, Campbell NT (1988). Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7) (p21;q22) J Med Genet 25:125-127.
10. Yomo A, Taira T, Kond I (1991). Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia and ptosis in sibs. Am J Med Genet 41:188-191.