Shprintzen-Goldberg syndrome: A clinical analysis

Abstract

Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus.

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

“…28 Some radiographic features are similar to those observed in Sphrintzen -Goldberg syndrome from which it can be clinically differentiated by the presence of craniosynostosis and mental retardation in the latter condition. 29 …”

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

“…SGS is not associated with cleft palate, arterial tortuosity or risk of aneurysm or dissection other than at the aortic root, and most affected individuals have no vascular pathology ( Table 2) 18 . Sequencing of TGFBR1 and TGFBR2 in five individuals with classic SGS identified no mutations (data not shown).…”

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

“…According to some authors, the SGS phenotype can be subdivided into patients with and without aortic dilatation. 8,30 Megarbane and Hokayem 31 further describe type I SGS patients with craniosynostosis and Marfanoid habitus and type II SGS patients with normal intelligence, aortic root anomalies, and mild skeletal dysplasia. 31 Our patients have features of the SGS phenotype without aortic manifestations and have craniosynostosis with a Marfanoid habitus.…”