Shprintzen-Goldberg syndrome: a clinical analysis.
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.
Greally
M T
MT
Department of Pediatrics, Arabian Gulf University, Manama, Bahrain.
Carey
J C
JC
Milewicz
D M
DM
Hudgins
L
L
Goldberg
R B
RB
Shprintzen
R J
RJ
Cousineau
A J
AJ
Smith
W L
WL
Judisch
G F
GF
Hanson
J W
JW
D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D003398:Craniosynostoses / Q000378:metabolism / Q000473:pathology*; D005260:Female; D000071837:Fibrillins; D005660:Funnel Chest / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000473:pathology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000378:metabolism / Q000473:pathology*; D008840:Microfilament Proteins / Q000378:metabolism; D013577:Syndrome
D000071837:Fibrillins; D008840:Microfilament Proteins