1/14. 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) |
2/14. leopard syndrome.An 18-year-old girl with leopard syndrome is described. Clinical manifestations include lentigines, ocular hypertelorism, mental and growth retardation, deafmuteness, and several patches of hair loss on her scalp. No family history of skin lentiginosis or any other inherited condition was found.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/14. leopard syndrome.The leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural). Hypertrophic cardiomyopathy, though not included in the mnemonic, is often associated. Although the leopard syndrome is rare, it is important to recognise it since it can be associated with serious cardiac disease. It is advisable to follow up patients with leopard syndrome for new onset of cardiac abnormalities and to monitor the progression of existing cardiac disease. We present a case report and review of the literature of this syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/14. Cardio-cutaneous syndrome (the "LEOPARD" syndrome). review of the literature and a new family.Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/14. Craniofacial-deafness-hand syndrome revisited.In 1983 Sommer described a new syndrome in a mother and her infant daughter which was subsequently called the syndrome of craniofacial, hand anomalies and sensorineural deafness. The syndrome consisted of a normal calvarium with a flat facial profile, hypertelorism and small palpebral fissures with an antimongoloid slant, a depressed nasal bridge with a button tip and slitlike nares and a small "pursed" mouth. Profound sensorineural hearing loss and ulnar deviation of the hands with flexion contractures of digits three, four and five was evident. The family had another child, a son, two years after the birth of the index case that had the exact manifestations as his mother and sister. Because of three affected family members in two generations and a phenotype of midfacial anomalies and dystopia canthorum resembling waardenburg syndrome, a search for mutations in the PAX3 gene was undertaken. A missense mutation in the paired domain of PAX3 (Asn47Lys) was detected. We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/14. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/14. 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) |
8/14. hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.An association of hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.- - - - - - - - - - ranking = 5keywords = hypertelorism (Clic here for more details about this article) |
9/14. Premature cataracts associated with generalized lentigo.Generalized lentigo (leopard syndrome) is an autosomal dominant trait characterized by lentigo, sensorineural deafness, retarded growth (below 25%), ocular hypertelorism, mandibular prognathism, pectus carinatum or excavatum, dorsal kyphosis, winging of the scapulae, valvular pulmonary artery stenosis, electrocardiographic conduction defects, and genitourinary defects. Ocular evaluations of patients with generalized lentigo have revealed the appearance of multiple small white punctate and comma-shaped opacities in the cortex and nuclci of the lenses of affected patients. On the basis of age of the patients examined, it would seem that the corneal opacities first appear in the third decade. Although the opacities may be extensive, the lens opacities do not appear to impair visual function until approximately twenty years after they first appear.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/14. FG syndrome in a premature male.A 30-week premature male infant is presented with dolichocephaly, frontal bossing, down-slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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