A patient with Shprintzen-Goldberg syndrome. Clinical follow-up for twelve years

Piero Pavone, Giuseppe Sessa
4.147 917


Shprintzen-Goldberg syndrome (SGS) is an uncommon disorder characterized by distinct patterns of malformation.
We here report a 16-year-old boy who showed the typical SGS phenotype with Marfan-like habitus, craniosynostosis, cranio-facial anomalies, pectus excavatum, joint hyperlaxity and skeletal anomalies. From birth the boy displayed many dysmorphic features as hypertelorism, broad nasal bridge, low set years, retromicrognathia, down-slanting palpebral fissures, inguinal and umbilical hernia, hypotonia. The hands and feet were long and slender with camptodactyly of the 2nd and 4th fingers of the right hand, hammer toes and hallux valgus.
The orthopanoramic X-ray taken at the age of 10 years showed a complex of dental anomalies including hypodontia, abnormalities of root anatomy and pulp canal shape and impacted teeth. Spinal X-ray examination showed convex scoliosis in the dorsal tract. Malformative signs in SGS have been widely described in literature, but those regarding the type and number of teeth anomalies have been not well pointed out. We maintain that teeth anomalies are one of the several signs which clinically define the syndrome.
At the age of 16 years, scoliosis was mildly progressive. Teeth malformations, as the others typical features, remained unmodified. Puberty delay, mild-moderate mental delay, fragile skin and facial dysmorphism are the present concerns.



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