1/4. Popliteal pterygium associated with neonatal marfan syndrome: case report.This report describes the case of a male infant with neonatal marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.- - - - - - - - - - ranking = 1keywords = arachnodactyly (Clic here for more details about this article) |
2/4. van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously delineated by van den Ende et al. [1992: Am J Med Genet 42:467-469] and Gupta et al. [1995: J Med Genet 32:809-812], with additional reports by Phadke et al. [1998: Am J Med Genet 77:16-18] and Bistritzer et al. [1993: Clin Genet 44:15-19]. This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. This report of affected siblings, and a previous report of double second cousins born to consanguineous parents [Bistritzer et al. [1993: Clin Genet 44:15-19]], suggests autosomal recessive inheritance. This brings to eight, the total number of reported cases, derived from six families, three of which are consanguineous. It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures. Both syndromes are inherited in an autosomal recessive fashion, but VDEGS lacks severe mental retardation, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS. Of particular importance, MWS may be associated with cerebellar malformations such as Dandy-Walker malformation, while the brothers reported herein with VDEGS both demonstrated distinctive cerebellar enlargement, a new finding for this disorder. While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.- - - - - - - - - - ranking = 8keywords = arachnodactyly (Clic here for more details about this article) |
3/4. van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.Here, we report on a Venezuelan child with manifestations of van den Ende-Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature.- - - - - - - - - - ranking = 5keywords = arachnodactyly (Clic here for more details about this article) |
4/4. 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.- - - - - - - - - - ranking = 1keywords = arachnodactyly (Clic here for more details about this article) |