1/11. Mutchinick syndrome in a Japanese girl.We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/11. Subcortical band heterotopia with simplified gyral pattern and syndactyly.We describe a girl with an unusual form of subcortical band heterotopia (SBH) and a complex malformation syndrome. SBH had an irregular inner margin, organized in contiguous fascicles of migrating neurons, sometimes giving the appearance of many small contiguous gyri. The true cortex had decreased thickness and showed a simplified gyral pattern with decreased number of gyri, which were usually of increased width, and shallow sulci. The cerebellum was hypoplastic. Additional features included epicanthal folds, hypertelorism, small nose with hypoplastic nares, bilateral syndactyly of the toes, pulmonary valve stenosis, atrial and ventricular septal defects. At the age of 1 year the patient had severe developmental delay and epilepsy. Chromosome studies and mutation analysis of the DCX and LIS1 genes gave negative results. This observation delineates a new multiple congenital abnormalities mental retardation syndrome and confirms genetic heterogeneity of SBH.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/11. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.Cenani-Lenz syndrome (CLS; MIM 212780) is a rare autosomal recessive syndactyly/synostosis syndrome. No facial dysmorphism was previously noted. We studied two families; in the first an affected female had a previously affected brother and her father was said to have been similarly affected. Extensive inbreeding in this family suggests quasidominant inheritance. In the second family there was a history of a similarly affected sib who, in addition, had genital anomalies and cleft palate. The parents were first cousins. Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/11. triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/11. prenatal diagnosis of fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.Sonography permitted the diagnosis of fraser syndrome (cryptophthalmos-syndactyly syndrome) at 18.5 weeks of gestation in a fetus whose parents had had a previous affected child. The karyotype of that child was 46,XX,inv(9)(p11q21); the karyotype of the phenotypically normal father and of the fetus was 46,XY,inv(9)(p11q21). Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs. On autopsy at 19 weeks, findings included renal agenesis, cryptophthalmos with multiple abnormalities of the eyes and ocular adnexa, laryngeal atresia, pulmonary hyperplasia with accelerated maturation, absence of the eustachian tube with connective tissue occupying the tympanic cavity and bone occluding the external acoustic meatus, and soft-tissue webbing between the digits. This is the second reported instance of prenatal diagnosis of fraser syndrome in the second trimester. The histopathologic findings in fraser syndrome at this gestational age, in particular the eye and ear, have not been described previously.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/11. Oculodentodigital dysplasia. Four new reports and a literature review.Four new patients with oculodentodigital dysplasia (ODD) have been examined. The salient and fairly constant features of ODD appear to be (1) unique facial appearance, (2) microcornea with other inconstant ocular findings, (3) syndactyly of the hands with additional characteristic phalangeal aberrations, (4) diffuse skeletal dysplasia, (5) enamel dysplasia, and (6) trichosis. Echographic studies indicate that ODD globes have microcornea with otherwise normal dimensions. An increased number of vessels crossing the optic discs was observed in three patients from one family. The distance between the inner canthi and the medial orbital walls in three patients we studied suggests that previous reports of hypertelorism may have been illusions resulting from microcornea, small palpebral fissures, and variably present epicanthus.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/11. Oto-palato-digital syndrome in an Iranian infant.A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous syndactyly of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I. The mother of this infant showed some signs of the same condition, including hypertelorism, micrognathia, small nose with depressed bridge, flat mid-face, impacted teeth and small chest. This case shows many similarities to oto-palatal-digital syndrome types I and II.- - - - - - - - - - ranking = 2keywords = hypertelorism (Clic here for more details about this article) |
8/11. The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.The BBB and G syndromes are multiple congenital anomaly (MCA) syndromes characterized by a developmental defect of the midline field. Prominent clinical manifestations are hypertelorism and, in males, hypospadias. Transmission is most likely autosomal dominant in both syndromes. Examination of two new cases and scrutiny of the literature led us to conclude that there are no discriminating qualitative differences between the two conditions. Therefore we propose that they both be designated by the common term "Opitz syndrome."- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/11. cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. Her mother had minor anomalies which could represent the mild expression of a gene. A review on the conditions combining ectodermal dysplasia and cleft lip/palate is presented.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/11. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
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