Dental and Medical Problems

Dent Med Probl
Index Copernicus (ICV 2020) – 128.41
MEiN – 70 pts
CiteScore (2021) – 2.0
JCI – 0.5
Average rejection rate (2021) – 81.35%
ISSN 1644-387X (print)
ISSN 2300-9020 (online)
Periodicity – quarterly

Download PDF

Dental and Medical Problems

2019, vol. 56, nr 3, July-September, p. 307–310

doi: 10.17219/dmp/109111

Publication type: clinical case

Language: English

Download citation:

  • BIBTEX (JabRef, Mendeley)
  • RIS (Papers, Reference Manager, RefWorks, Zotero)

Creative Commons BY-NC-ND 3.0 Open Access

Shprintzen–Goldberg syndrome with plagiocephaly: A case report

Zespół Shprintzena–Goldberga ze skośnogłowiem – opis przypadku

Chaitali Hambire1,A,B,C,D,E,F

1 Department of Pediatric Dentistry, Government Dental College and Hospital, Aurangabad, India


The Shprintzen–Goldberg syndrome (SGS) is an autosomal dominant disorder with multiple congenital abnormalities. It is the result of de novo gene mutations. Recently, mutations in the SKI gene are considered to be related to this syndrome. This gene is responsible for the manufacturing of protein which regulates the transforming growth factor beta (TGF-β) signaling pathway. There are characteristic craniofacial, skeletal, neurological, and connective tissue abnormalities associated with SGS. This is a case report of a 6-year-old male child who reported to the Department of Pediatric Dentistry at the Government Dental College and Hospital, Aurangabad, India, with decayed teeth. He had craniofacial, skeletal, cardiovascular, and other abnormalities suggestive of SGS. The patient had a tall forehead with plagiocephaly and a high-arched palate with hypoplastic teeth. His ears were apparently low-set with posterior rotation. The child had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The child had moderate mental retardation with craniofacial features typical of this syndrome. The Shprintzen–Goldberg syndrome has many similarities with the Marfan syndrome (MFS) or the Loeys–Dietz syndrome (LDS) due to considerable phenotypic overlapping.

Key words

strabismus, Shprintzen–Goldberg syndrome, high-arched palate, plagiocephaly

Słowa kluczowe

zez, syndrom Shprintzena–Goldberga, podniebienie gotyckie, skośnogłowie

References (24)

  1. Greally MT, Carey JC, Milewicz DM, et al. Shprintzen–Goldberg syndrome: A clinical analysis. Am J Med Genet.1998;76(3):202–212.
  2. Topouzelis N, Markovitsi E, Antoniades K. Shprintzen–Goldberg syndrome: Case report. Cleft Palate Craniofac J. 2003;40(4):433–436.
  3. Shprintzen RJ, Goldberg RB. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. J Craniofac Genet Dev Biol. 1982;2(1):65–74.
  4. Doyle AJ, Doyle JJ, Bessling SL, et al. Mutations in the TGF-β repressor SKI cause Shprintzen–Goldberg syndrome with aortic aneurysm. Nat Genet. 2012;44(11):1249–1254.
  5. Robinson PN, Neumann LM, Demuth S, et al. Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis. Am J Med Genet. 2005;135(3):251–262.
  6. Sugarman G, Vogel MW. Craniofacial and musculoskeletal abnormalities. A questionable connective tissue disease. Synd Iden. 1981;7:16–17.
  7. Carmignac V, Thevenon J, Ades L, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen–Goldberg syndrome. Am J Hum Genet. 2012;91(5):950–957.
  8. Kosaki K, Takahashi D, Udaka T, et al. Molecular pathology of Shprintzen–Goldberg syndrome. Am J Med Genet. 2006;140(1):104–108.
  9. Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen–Goldberg) syndrome. Nat Genet. 1996;12(2):209–211.
  10. Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen–Goldberg syndrome with tetralogy of Fallot and subvalvar aortic stenosis. J Ultrasound Med. 2005;24(5):703–706.
  11. Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B. Germline mosaicism in Shprintzen–Goldberg syndrome. Am J Med Genet. 2012;158A(7):1574–1578.
  12. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal deve­lopment caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37(3):275–281.
  13. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788–798.
  14. Dietz HC. Marfan syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2014; 2001 [updated 2017]. Accessed January 17, 2019.
  15. Godfrey M. Congenital contractural arachnodactyly. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2014; 2001 [updated 2012]. Accessed January 18, 2019.
  16. Godfrey M. Fibrillin-2 mutations in congenital contractural arachnodactyly. In: Robinson PN, Godfrey M, eds. Marfan Syndrome: A Primer for Clinicians and Scientists. New York, NY: Plenum; 2004:123–129.
  17. Gorlin RJ, Cohen MM Jr. Frontometaphyseal dysplasia. A new syndrome. Am J Dis Child. 1969;118(3):487–494.
  18. Danks DM, Mayne V. Frontometaphyseal dysplasia: A progressive disease of bone and connective tissue. Birth Defects Orig Artic Ser. 1974;10(12):57–60.
  19. Holt JF, Thompson GR, Arenberg IK. Frontometaphyseal dysplasia. Radiol Clin North Am. 1972;10(2):225–243.
  20. Melnick JC, Needles CF. An undiagnosed bone dysplasia. A 2-family study of 4 generations and 3 generations. Am J Roentgenol Radium Ther Nucl Med. 1966;97(1):39–48.
  21. LaMontagne AE. Urological manifestations of the Melnick–Needles syndrome: A case report and review of the literature. J Urol. 1991;145(5):1020–1021.
  22. Stoll C. Shprintzen–Goldberg marfanoid syndrome: A case followed up for 24 years. Clin Dysmorphol. 2002;11(1):1–7.
  23. Antley R, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser. 1975;11(2):397–401.
  24. Greally MT. Shprintzen–Goldberg syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2014; 2006 [updated 2013]. Accessed January 21, 2019.