1/56. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome.anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/56. Two sibs with Malpuech syndrome.We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/56. Spheno-pharyngeal meningocele and cleft palate. Case report with 12-year follow-up.A rare congenital anomaly consisting of a spheno-pharyngeal meningocele and cleft palate is presented. The repair of the meningocele was accomplished through an intra-oral transpalatal approach. A primary pharyngeal flap was used to accomplish the repair of the cleft palate. Fortunately, there were no important anomalies of the central nervous system. Twelve years later, the patient functions normally and speaks well. The only remaining symptom of midline craniofacial dysmorphia is a mild hypertelorism.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/56. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity.A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos. Basal encephalocele is a rare disease, and usually not detectable from the outside. In this case, initially the cause of an upper airway obstruction was considered to be posterior rhinostenosis, and posterior rhinoplasty with inferior nasal conchectomy was scheduled. However, in preoperative examination, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a bony defect in the sphenoidal bone and a cystic mass in communication with cerebrospinal fluid, herniating into the nasal cavity through the bony defect. The mass was diagnosed as a transsphenoidal encephalocele, the scheduled operation cancelled, and tracheostomy performed for airway management. The possibility of basal encephalocele should be considered in the case of upper airway obstruction with facial midline deformity.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/56. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: a case report with CT scan findings and review of literature.Frontonasal dysplasia is defined as hypertelorism, telecanthus and broad bridge of the nose with absent or bifid tip of the nose. The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate are discussed. The contemporary literatures on this rare congenital anomaly are also reviewed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/56. 4p- phenotype in an infant with t(4p-;19p or q )mat translocation.Four family members had an apparently balanced t(4p-;19p or q ) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/56. New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/56. Roberts syndrome, normal cell division, and normal intelligence.Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/56. valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.A baby born to an epileptic mother had dysmorphological features associated with 47,XXX karyotype. The mother had been treated with valproic acid (1800mg per day) and lamotrigine (100mg per day) throughout pregnancy. Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, cleft palate, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles. At 6 months old she showed motor retardation. The molecular analysis of parents revealed that extra x chromosome was inherited from the mother. In this case whether the dysmorphological features and 47,XXX karyotype were caused by lamotrigine and valproic acid treatment during pregnancy or coincidence is in question.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/56. prenatal diagnosis of double autosomal mosaicism (47,XX, 8/47,XX, 14): phenotype and molecular cytogenetic analysis on different tissues.A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX, 8/ 47,XX, 14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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