Marfanoid features and craniosynostosis: report of one case and review.
A new syndrome was delineated by Shprintzen and Goldberg (1982) based on the description of two patients with scaphocephaly, facial dysmorphism, arachnodactyly, mental retardation and other connective tissue defects. Sugarman and Vogel (1981) reported another child with the same overall pattern of anomalies. A fourth patient with normal mental development was described by Furlong et al. (1987) as a new syndrome. We report on another example of marfanoid features associated with craniosynostosis. This boy has no mental retardation and the case seems to be similar to the Furlong case but different from the others because of the lack of mental retardation.
Lacombe
D
D
Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux, France.
Battin
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*