1/13. Terminal 6q25.3 deletion and abnormal behaviour.A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. The special behavioural difficulties were made of restlessness, hyperactivity, obsessive compulsive reactions with a self-injurious tendency and episodes of apparently voluntary vomiting crisis concomitant with stress periods. A review of the available literature strongly suggests that individuals with small chromosomal deletions are at high risk of developing behavioural problems.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/13. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and reduced platelet count. This syndrome, originally reported by Jacobsen, is now corroborated by more than 35 patients and appears as the most common deletion involving 11q. Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/13. Additional case of Neuhauser megalocornea and mental retardation syndrome with congenital hypotonia.We report on a 3-1/2-year-old Spanish girl with the Neuhauser megalocornea and mental retardation syndrome. A review shows that megalocornea, mental retardation, and, presumably, hypotonia, are the major manifestations for diagnosis. The facial appearance of the typical cases is characterised by frontal bossing, broad nasal bridge, mild hypertelorism, long upper lip, and small mandible.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/13. Pure trisomy 19p syndrome in an infant with an extra ring chromosome.We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/13. Ring chromosome 22: a case report.A three year old girl with ring chromosome 22 is described. The clinical findings include epicanthus, flat nasal bridge, hypertelorism, long eye-lashes, lymphoedema, hypoplastic toe nails, hydrocephalus and muscular hypotonia. speech and language development is delayed. At three years the child begins to walk.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/13. The acrocallosal syndrome in a Turkish boy.A 6 month old Turkish boy with the acrocallosal syndrome is reported. The patient, born to consanguineous, healthy parents, presented with macrocephaly, a prominent forehead, hypertelorism, polydactyly of the fingers and toes, severe motor and mental retardation, hypotonia, and absence of the corpus callosum. The mode of inheritance is discussed and our case is compared with previously reported cases of the syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/13. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dysplasia.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/13. Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.Sixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with the various cytogenetic entities is presented. Changes found in over one-third of patients with 7q terminal deletion syndrome include: developmental delay, pre- and postnatal growth retardation, generalized hypotonia, abnormal electroencephalograms with or without seizures, feeding problems in infancy, microcephaly, prominent forehead, ocular hypertelorism, eye defects, broad nasal bridge, bulbous nasal tip, auricular malformations, micrognathia, chest abnormalities, genital malformations in males, and abnormal palmar and plantar creases. Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed; we conclude that the evidence does not warrant placement of the gene in this region of the genome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/13. 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) |
10/13. A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. birth weight, postnatal physical growth, and head size were average. family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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