1/6. Melnick-needles syndrome.A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/6. 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) |
3/6. Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/6. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/6. 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) |
6/6. New syndrome in three affected siblings.A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |