1/4. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids. We herein report a 12-year-old girl with BPES who had bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures. mutation analysis revealed the insertion of a cytosine (dup 1036C) within a wild-type run of six cytosines. A comparison of the phenotypic outcomes of the previously described mutations and the dup 1036C mutation reported herein suggest that the outcome is largely dependent on the involvement of the polyalanine tract (residues 221 to 231). We suggest that the polyalanine tract may have a differential role in eyelid and ovarian development and function. Further work is required to clarify whether ovarian function can be predicted on the basis of genotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (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 = 1keywords = hypertelorism (Clic here for more details about this article) |
3/4. A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.Congenital double lip is an uncommon developmental abnormality usually affecting the upper lip. We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate, and bilateral third finger clinodactyly. The disorder differs from Ascher syndrome and appears to represent a newly recognized syndrome.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
4/4. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, abnormal supra-umbilical abdominal wall, and mental deficiency. The phenotypic findings are compared with the six previously reported Michels cases, and with patients referred to as Carnevale, OSA, and Malpuech syndromes. Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis. Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus. OSA syndrome resembles Carnevale, with humeroradial synostoses, and spinal anomalies as extra features. Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive. Despite the presence of apparently distinctive key features, it appears that these four entities share multiple similarities in the facial Gestalt and the pattern of MCA. Those similarities lead us to postulate that they belong to the same spectrum, which could be referred to as "3MC syndrome" (Malpuech-Michels-Mingarelli-Carnevale syndrome).- - - - - - - - - - ranking = 2keywords = hypertelorism (Clic here for more details about this article) |