Showing papers on "Hypertelorism published in 1984"
TL;DR: The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
Abstract: An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.
137 citations
TL;DR: Two infants with prominent frontal bossing, hydrocephalus, microphthalmia, and small, malformed, low-set, undifferentiated ears were born to mothers who had taken isotretinoin in the first trimester of pregnancy.
Abstract: Two infants with prominent frontal bossing, hydrocephalus, microphthalmia, and small, malformed, low-set, undifferentiated ears were born to mothers who had taken isotretinoin in the first trimester of pregnancy. A Dandy-Walker malformation, microcephaly, hypertelorism, small ear canals, cleft palate, small mouth, and congenital heart disease were also observed. Isotretinoin is a potent teratogen in man; maternal ingestion early in pregnancy leads to a distinct clinical pattern of anomalies. ( JAMA 1984;251:3267-3269)
113 citations
TL;DR: Three unrelated stillborn infants (cases 1-3) are presented here with a distinct constellation of multiple anomalies that constitute a previously undescribed syndrome.
Abstract: Three unrelated stillborn infants (cases 1–3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low-set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia.
Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico-thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio-ulnar synostosis.
Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining ofthe resting cartilages (cases 1, 2).
To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4–6) are also presented to show a possible heterogeneity of this syndrome.
71 citations
TL;DR: Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed and it is concluded that the evidence does not warrant placement of the gene in this region of the genome.
Abstract: 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.
64 citations
TL;DR: Non-familial strabismus was the most prominent ocular abnormality and was present in 33% of the patients with Turner syndrome and other eye findings included ptosis, hypertelorism, epicanthus, and antimongoloid slants.
51 citations
31 citations
27 citations
TL;DR: In this case, the severe hydrocephalus led us to a more detailed examination of the head and face, and these canthal measurements were markedly increased, confirming the diagnosis of hypertelorism.
26 citations
TL;DR: A 2-month-old girl whose parents are first cousins with severe craniofacial anomalies suggests the diagnosis of frontofacionasal dysplasia, and parental consanguinity suggests autosomal recessive inheritance.
Abstract: We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.
19 citations
Journal Article•
TL;DR: It seems obvious that a clinical syndrome for the distal deletion 13q appears to exist, but more studies with banded chromosomes are needed.
Abstract: The case is presented of a patient with the karyotype 46,XX,del(13q)(pter----q22::q32----qter) confirmed by densitometry and a phenotype of mental and growth deficiency, hypotonia, hypertelorism, ptosis, broad nasal bridge, protruding upper incisors, short neck, dislocation of the hip, hypoplasia of the thumbs, fusion of fourth and fifth metacarpal bones and syndactyly of toes. The findings are compared with those of well documented cases with a similar deleted segment of the long arm of chromosome 13. Although it seems obvious that a clinical syndrome for the distal deletion 13q appears to exist more studies with banded chromosomes are needed.
15 citations
TL;DR: The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.
Abstract: A case of tetrasomy 22pter leads to q11 with ocular hypertelorism, downward slanting palpebral fissures, total anomalous pulmonary venous return, and anal atresia is described. The phenotypic variability of the cat eye syndrome is emphasised along with the need for categorisation of these patients according to well characterised cytogenetic findings.
TL;DR: A distal duplication 14q syndrome is further delineated, with common features including postnatal growth retardation, mental retardations, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.
Abstract: Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11). By review of these cases and those previously reported, a distal duplication 14q syndrome is further delineated. Common features include postnatal growth retardation, mental retardation, hypotonia, microcephaly, slanted palpebral fissures, ocular hypertelorism, sparse eyelashes and eyebrows, nasal dysmorphism, tented lip, micrognathia, posteriorly rotated ears, and minor skeletal anomalies.
TL;DR: The high prevalence of hypertelorism in the group of patients makes its direct association with neurofibromatosis highly feasible and its ease of clinical recognition and its presence at birth would make it a valuable early diagnostic criterion.
Abstract: • Hypertelorism was observed in eight of 34 patients with neurofibromatosis. This diagnosis was made by measuring the intercanthal distance and calculating the interpupillary distance from it. The bones of the base of the skull and of the face are mesenchymal structures of neural crest origin. Skull dysplasias, in which hypertelorism can be included, fit well into the neurocristopathy concept of neurofibromatosis. Hypertelorism seems to herald a severe expression of neurofibromatosis, eg, with brain involvement, and would therefore be an indication for doing a computed tomographic scan. The high prevalence of hypertelorism in our group of patients (24%) makes its direct association with neurofibromatosis highly feasible. Its ease of clinical recognition and its presence at birth would make it a valuable early diagnostic criterion. ( Arch Dermatol 1984;120:1579-1581)
TL;DR: A patient with terminal deletion of the long arm of chromosome 7 with marked ocular abnormalities including severe microphthalmus and large retinal colobomas is reported.
Abstract: Patients with distal deletions of the long arm of chromosome 7q have been reported with a variety of non-specific findings. Ocular findings have been limited to hypertelorism, palpebral fissure abnormalities, strabismus and speckled irides and no intraocular pathology with the exception of one case with unilateral optic nerve coloboma. We report a patient with terminal deletion of the long arm of chromosome 7 with marked ocular abnormalities including severe microphthalmus and large retinal colobomas.
TL;DR: Genitourinary anomalies other than hypospadias were observed frequently and included cryptorchidism, vesicoureteral reflux and minor upper urinary tract variations.
Journal Article•
TL;DR: The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults that the reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.
Abstract: A recombinant chromosome change with dup(2)(q34----qter) secondary to a paternal inv(2) (pter----q34) was found in a 19-year-old boy and his 12-year-old sister. Both were born at term with normal birth weight and head circumference. Hypertelorism, irregular nystagmus, broad flat nasal bridge, and short beaked nose with anteverted nostrils were noted neonatally. Both developed microcephaly and brachycephaly. Cardiac, urogenital, retinal, and optic disc anomalies and onset of progressive kyphosis in adolescence were detected. Their facial appearance, with birdlike "Muppet Gonzo" features, was increasingly accentuated with age. Both had mild mental retardation with IQ's around 70. The clinical findings in these siblings were compared with those described in 23 cases with various 2q partial trisomies. The results of the present study and previous studies indicate a characteristic clinical presentation in children and adults. The reluctance to define the specific phenotype for distal 2q trisomy might be due to the fact that the clinical features tend to be considerably more pronounced towards adolescence than neonatally.
TL;DR: Using various banding techniques, the complicated multiple rearrangement could be interpreted as a unique combination of non-reciprocal translocation and insertion involving chromosomes 7, 10, 14 and 21.
Abstract: This paper reports a rare case of complex structural rearrangement involving four chromosomes. The patient, a five-year old girl, exhibits mild physical deformities, such as hypertelorism, blepharophimosis, brachydactyly and clinodactyly of both the second and fifth fingers. Using various banding techniques, the complicated multiple rearrangement could be interpreted as a unique combination of non-reciprocal translocation and insertion involving chromosomes 7, 10, 14 and 21.
TL;DR: 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.
Abstract: 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.
01 Aug 1984
TL;DR: A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented, which had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears.
Abstract: A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented. The baby had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears which are common to cases with partial 2q trisomy. Additional findings of aniridia and marked corneal pathology are reported.
TL;DR: It is not known whether the intravitreous hemorrhage from which this patient suffered is associated with the disorder, but in differential diagnosis distal arthrogryposis has to be considered.
Abstract: Report on a 56-year-old female exhibiting features of the multiple pterygium syndrome, e.g., puffiness and ptosis of the upper lids, hypertelorism, pterygium of the metacarpophalangeal joints, hypomobility of joints, short stature, obviously inherited as an autosomal recessive trait. In differential diagnosis distal arthrogryposis has to be considered. It is not known whether the intravitreous hemorrhage from which this patient suffered is associated with the disorder.
Journal Article•
TL;DR: Two children with the unusual condition known as Apert's syndrome are presented and the importance of early physical and social rehabilitation is stressed.
Abstract: Two children with the unusual condition known as Apert's syndrome are presented. Both have the typical manifestations of the syndrome: craniosynostosis, exorbitism, hypertelorism, maxillary hypoplasia, dental malocclusion, cleft palate, compound syndactyly of the hands and simple syndactyly of the feet. A review of the latest surgical procedures for correction of these defects is presented and the importance of early physical and social rehabilitation is stressed.
Journal Article•
TL;DR: A patient with partial trisomy 2q due to the malsegregation of a balanced maternal (2;7) translocation is reported, who presented the characteristic clinical features: microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils.
Abstract: A patient with partial trisomy 2q due to the malsegregation of a balanced maternal (2;7) translocation is reported. The proposita, who died a few hours after birth, presented the characteristic clinical features: microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils. Her karyotype was 46,XX,der(7),t(2;7)(q321;p22) mat.
TL;DR: In this paper, a patient with multiple jaw cysts of deafmutism with a cleft lip and cleft jaw, and had several examinations on suspicion of a basal cell nevus syndrome was first seen at the First Department of Oral Surgery, Fukuoka Dental College.
Abstract: We saw a patient who had multiple jaw cysts of deaf-mutism with a cleft lip and cleft jaw, and had several examinations on suspicion of a basal cell nevus syndromeThe patient, an 18-year-old woman was first seen at the First Department of Oral Surgery, Fukuoka Dental College, because of swelling in labial gingiva of the region from the left mandibular canine to the right mandibular canine Roentgenographic examinations disclosed cystic radiolucencies in maxilla and mandibleFurther, general examination revealed frontal bossing, a broad nasal root, hypertelorism, right heterochromie, numerous pigmental spots at the left neck, palmar and plantar pits in both palms, scoliosis and scoliokyphosisEndocrinal and chromosomal examination showed nothing particularCysts were enucleated and their histopathological diagnoses were odontogenic keratocystShe had satisfactory prognosis without relapse We think it necessary to have a long term follow-up
Journal Article•
TL;DR: A 21-year-old female patient with hypertrophic obstructive cardiomyopathy and lentiginosis and the postoperative follow-up was uneventful.
Abstract: A 21-year-old female patient with hypertrophic obstructive cardiomyopathy and lentiginosis is described. This entity is known to belong to the LEOPARD syndrome (L-entigines, E-electrocardiographic conduction defects, O-cular hypertelorism, P-ulmonary stenosis, A-bnormalities of genitalia, R-etardation of growth, sensorial D-eafness). The patient underwent surgery for severe obstruction of the left ventricular outflow tract; the postoperative follow-up was uneventful.