Showing papers on "Hypertelorism published in 1987"

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or pallister-killian syndrome): report of 11 cases

Abstract: We report on 11 cases of isochromosome 12p mosaicism (or Pallister mosaic aneuploidy syndrome) in which the isochromosome is usually absent in cultured lymphocytes but present in fibroblasts. The patients range in age from a 22-week-gestation fetus to a 45-year-old man. They have a distinct pattern of anomalies which enables one to make a diagnosis based on clinical manifestations alone. Craniofacial manifestations include "coarse" face with prominent forehead, sparsity of scalp hair, hypertelorism, epicanthal folds, flat bridge of nose, and highly arched palate. Affected newborn infants are profoundly hypotonic with sparsity of scalp hair especially bitemporally and a prominent forehead. Most have accessory nipples. Birthweight and growth parameters are usually normal; however, some newborn infants are unusually large. In infancy, the facial appearance becomes "coarse," hypotonia persists, and seizures may occur. As adults, growth may be normal, scalp hair is thicker and the mandible becomes prominent. Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. All cases have been sporadic and there is no consistent pattern of advanced parental age.

Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?

Abstract: We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina pari-etalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypo-plasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 31/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occur-rence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a “new” syndrome caused by the homozygous state of an autosomal recessive gene.

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

Abstract: 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."

Delineation of the male phenotype in craniofrontonasal syndrome

Abstract: We are reporting on a 4-generation family in which 6 individuals had frontonasal dysplasia with variable extracranial abnormalities. All affected persons had hypertelorism, bifid or broad nose, and highly arched palate. Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth finger clinodactyly (5/6), longitudinal grooves of nails (5/6), shawl scrotum (2/3 males), first degree hypospadias (1/3), and mild mental retardation (1/6). Only one affected female had brachycephaly and right coronal synostosis. Four other affected relatives had varying degrees of facial asymmetry, but normal skull contour. No male to male transmission is observed, and both daughters of an affected male were affected. Based on the phenotype of the 3 affected females, craniofrontonasal syndrome (CFNS) is the likely diagnosis. However, there are 3 affected males in this kindred, and 2 of the 3 had significant anomalies. Affected males also had genital abnormalities and pectus deformity of the chest, not previously reported in this condition. Two of the 3 males have posterolateral diaphragmatic hernia. This family expands the phenotype of affected males.

New autosomal dominant syndrome resembling craniofrontonasal dysplasia

Abstract: Craniofrontonasal dysplasia, a distinct malformation syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities—in particular, brittle nails with prominent longitudinal grooves or Splitting. There is marked female preponderance and variable expressivity not only between males and females but also between females. However, mode of inheritance is still unclear. We describe a large Arab kindred with 16 individuals (9 males, 7 females) in 4 generations having an apparently new autosomal dominant syndrome with features of Craniofrontonasal dysplasia but with normal or slightly broad nasal tip and without evidence of craniosynostosis or nail abnormalities. These cases were segregating in 5 sibships and include male to male transmission with full expression in males and females. Chromosomes of the proposita and her father were normal. Aarskog syndrome has been also considered in the differential diagnosis and was excluded.

More on Human Immunodeficiency Virus Embryopathy

Abstract: Eight patients with acquired immunodeficiency syndrome (AIDS) or AIDS-related complex, ranging in age from 4 to 33 months, were evaluated for the presence of dysmorphic features recently described as human immunodeficiency virus embryopathy. Birth data and growth charts were available. Growth failure, a prominent box-like head, large wide eyes, and a well-formed philtrum were seen in the majority of patients. The significance of hypertelorism, obliquity of eyes, long palpebral fissures, blue scleras, depressed bridge of nose, and prominent upper vermilion border is discussed.

Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.

Abstract: 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.

A case of de novo interstitial deletion 3q.

Abstract: A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arched palate, progressive scoliosis, multiple skin pigmentations, and renal abnormalities. The parents had normal karyotypes.

Frontonasal dysplasia associated with tetralogy of Fallot.

Abstract: Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.

Abstract: We recently examined a 26-month-old boy with abnormal face, blepharophimosis, hypertelorism, apparently low-set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden-Walker syndrome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.

Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base.

Abstract: Duplication 7p has been observed in association with several balanced translocations Of eight previously recorded cases, only one exhibited duplication of the entire short arm of chromosome 7 We report on a newborn infant with multiple congenital anomalies and an abnormal chromosome constitution: 46,XX, −11, +der(11),t(7;11) (p111;p155)mat The proposita appeared to possess an isolated duplication of the entire short arm of 7 The patient died at age 4 days because of respiratory complications of meconium aspiration Clinical and postmortem findings included craniocerebral asymmetry, craniosynostosis of a lambdoid suture, arhinencephaly, hypertelorism, anomalies of the ethmoidal portion of the cranial base, large anterior fontanelle, low set ears, ventricular septal defect (VSD), dysplastic tricuspid and pulmonic valves, hypoplastic genitalia, bilateral dislocated hips, and other minor limb malformations

Partial trisomy 6q: case report with necropsy findings.

Abstract: A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.

Congenital anal anomalies in two families with the Opitz G syndrome.

Abstract: Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling.

A new method for the correction of hypertelorism with preservation of the olfactory nerve filaments.

Abstract: Summary A method for the preservation of the olfactory nerve filaments in cases of hypertelorism correction is described. The cribriform plate is completely resected and the nerve filaments gathered in the midline after medial rotation of the orbits. In contrast to Converse 's (1970) procedure of paramedian osteotomies the method allows full correction of all degrees of hypertelorism, even in the most extreme cases, without olfactory nerve impairment.

A girl with the Weaver syndrome.

Abstract: A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

Sudden death in childhood in a case of the G syndrome.

Abstract: We report on the unexpected death at almost 8 years of a boy with the G syndrome who had successfully survived many prior life-threatening complications of the condition. The patient had a characteristic facial appearance, hypertelorism, second-degree hypospadias, stridor and cough on feeding with aspiration of barium, and uncoordi-nated esophageal swallowing mechanism, but no obvious laryngotracheobranchial defect on endoscopy (or coroner's autopsy). He had had a prior cardiac arrest and had outgrown need for a tracheostomy. Aspiration is presumed to be the cause of death.

[Cardiovascular dysplasia in Noonan's syndrome. Apropos of 64 cases].

Abstract: The multiple malformation syndrome with characteristic facies described by Jacqueline Noonan in 1963 is one of the most commonly encountered syndromes in paediatric cardiology. The series presented here comprises 64 cases, almost a quarter of which were familial (6 families). The morphotype (Turner phenotype with hypertelorism) can easily be recognized, but the variations, progressivity and resemblance to some similar syndromes imply a detailed analysis of a wide range of discriminant features. Short stature and webbed neck are less frequent than in Turner's syndrome, while mental debility and, mostly, cardiovascular lesions are much more frequent (the latter are present in 50-60% of the cases). The most typical cardiovascular lesion is pulmonary valve stenosis with dysplastic leaflets, or "atypical pulmonary stenosis syndrome", characterized by a curious electrical axis and above all, by left ventricular myocardiopathy with very peculiar deformations at ventriculography and 2D-echocardiography. In our series, myocardiopathy was even more frequent than dysplastic pulmonary valve stenosis (71.8% versus 64%). The dissemination of dysplastic lesions must be emphasized. They involve the aorta much more often than is usually reported (one-third of the cases); lesions of the lymphatic system are less frequent but may be severe. Occasionally, entirely different heart diseases, such as Fallot's tetralogy, are encountered. Owing to the relationship between its lesions and those of other multiple malformation syndromes, notably those of the phakomatosis group, and to the possibility of borderline cases with these syndromes, or even with other dystrophies, such as Williams-Beuren dystrophia, the cardiovascular dysplasia of Noonan's syndrome must be classified within the vast group of histodysplasias which are embryonic diseases of the "layers" or "neuro-ecto-mesodermoses" of unknown genetic mechanism.

Mucocele of the paranasal sinuses as a cause of orbital hypertelorism

Abstract: A case of a child with allergic asthma and mucocele of the paransal sinus who developed orbital hypertelorism is presented. The association between allergy and asthma and the formation of mucoceles is discussed and a possible mechanism for the development of orbital hypertelorism during adolescence is suggested. The management of mucoceles of the paranasal sinuses during craniofacial surgery is described. The need for long-term follow-up is emphasized.

Association of severe microcephaly, short palpebral fissures, micrognathia, growth retardation and early death: a new syndrome.

Abstract: Four siblings presenting a combination of severe microcephaly, short and laterally downward slanting palpebral fissures, hypertelorism, micrognathia, and growth retardation are reported. The proband had congenital heart disease complicating these characteristic symptoms. The parents were not consanguineous. The karyotypes of the proband and parents were normal. The faces of three brothers of the proband were very much like that of the proband, but tvjo of them had cleft palates. Although it was confirmed that one of the three brothers did not have congenital heart disease, its presence in the other two could not be ascertained. All three older brothers died within one month after birth.

Skeletal dysplasia in an infant with hypertelorism, hypospadias, developmental delay, and a complex chromosomal translocation.

Abstract: A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.

Surgical Treatment of Orbital Hyper- and Hypotelorism

Abstract: Orbital hyper- and hypertelorism are malformations usually found secondary to encephalocele, facial cleft, medial facial dysraphia, or craniosynostosis. After the pioneer work of Tessier [5] the possibility of surgical treatment of these craniofacial deformities started to become a reality. This paper presents the surgical techniques used to correct the aesthetic and functional aspects of the increased or decreased distance between the eyes.

Partial 1p monosomy in a physically and mentally retarded boy.

Abstract: An 8-year-old boy is reported with marked mental and physical retardation, microcephaly, hypertelorism, mongoloid palpebral fissures, hypoplasia of the maxillary portion of the face, and other discrete anomalies. Deletion of the distal portion of the short arm of the chromosome 1 and the karyotype 46,XY, del(1)(p33----pter) was detected.

The Opitz hypertelorism-hypospadias syndrome. Further delineation of the spectrum of clinical findings

Abstract: In this paper we report three male patients with the Opitz hypertelorism-hypospadias syndrome. In addition to the typical morphological findings, signs of cerebral palsy related to dysmaturity and perinatal adaptation problems were present in two of them. This illustrates that this syndrome is a true multiple congenital anomaly/mental retardation MCA/MR syndrome with great variability in expression of clinical symptoms.

Herrmann-Opitz syndrome: report of an affected fetus.

Abstract: In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death

Basal cell nevus syndrome: Report of a case

Abstract: A case of basal cell nevus syndrome was reported.The patient, a 10-year-old boy, was referred to the Department of Oral and Maxillofacial Surgery, Nara Medical University, because of swelling at premola region in the left mandible.X-ray examination showed radiolucent areas involving 3 and 4 at the left upper jaw and 3 at the left lower jaw.General examination revealed increased cranial circumference, frontal bossing, broadened nasal root, ocular hypertelorism, fusion of eyebrows, synostosis of the fifth and sixth ribs on the right, palmar-plantar pits, spinal scoliosis, blue papule on the flexor surface of the left forearm and cryptorchism.Histopathological diagnosis identified that the multiple jaw cysts were odontogenic keratocysts and the blue papule was epidermal cyst.Chromosomal examination showed nothing unusual.Further, repair function of UV-induced DNA damage was examined in order to explore the possibility that the multiple basal cell carcinoma may arise in the syndrome.

Operative Experience in a Case of Facial Duplication

Abstract: This report deals with a case of facial duplication with orbital hypertelorism (Fig. 1). At birth, this baby had severe orbital hypertelorism. A tumor about 8 x 8 x 6 cm in size was situated in the interorbital space. In spite of this unusual facial anomaly, the rest of the body was quite normal. A biopsy was carried out 14 days after birth, and a part of the intestine and a part of the extremity were identified. When 14 months old, this baby underwent a craniofacial surgical procedure, which is illustrated in Fig.2. On this occasion, the entire tumor was excised and the orbital hypertelorism was corrected [1]. Following this surgical procedure, several steps of soft tissue correction, including that of the cleft palate, were carried out. The results of these procedures are shown in Fig. 3. The author believes that this case has contributed a great deal to the discipline of craniomaxillofacial surgery. Up to now this baby has been quite active and has lived a normal life, but further examination will be carried out in coming years and will be the subject of future reports.