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Zangwill K M - - 1988
We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance ...
Murty P S - - 1988
The major congenital malformations of the first and second branchial arch derivatives such as mandibulofacial dysostosis have a genetic basis. Treacher-Collins syndrome is transmitted as an autosomal dominant trait, although many cases occur as spontaneous mutations. The characteristics are hypoplasia of the malar, mandibular and maxillary bones, antimongoloid slanting of ...
Tachi N - - 1988
We report the first Japanese female patient with Walker-Warburg syndrome. She had generalized muscle hypotonia with hydrocephalus due to Dandy-Walker malformation and bilateral microphthalmia with opaque corneas. She had severe motor and mental retardation. Muscle histology reflected advanced changes of muscular dystrophy. We discuss the relationship between Fukuyama congenital muscular ...
Kiuchi M - - 1988
An apparently healthy 80-day-old boy died suddenly for no apparent reason. The autopsy revealed that the patient had had congenital asplenia, extensive cardiovascular anomalies, and other organ malformations, including trisegmented lungs, hypoplasia of the corpus callosum and cranial bones, a symmetrical liver, accessory hepatic tissue in the adrenal glands, malrotation ...
Sedano H O - - 1988
Several new "syndromes" have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A ...
Goodman R M - - 1988
An 18 year old single Jewish woman with the Waardenburg syndrome and absence of a vagina and right sided adnexa uteri is reported. Other congenital malformations associated with the Waardenburg syndrome are mentioned and it is postulated that they may be the result of an altered invasion of neurones or ...
Stanley C S - - 1988
A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presence of a residual conductive loss after successful placement of ventilating tubes suggests that the conductive loss is due to an ossicular abnormality. In Larsen syndrome, characterized by multiple joint dislocations and bony malformations, the ...
Whittington R J - - 1988
A syndrome of congenital malformations in Corriedale sheep characterised by brachygnathia inferior, campylognathia, tetraemlic arthrogryposis, kyphoscoliosis, hydranencephaly and hypoplasia of the brain stem, cerebellum and spinal cord occurring in various combinations is described. Histologically there was generalised hypomyelinogenesis and hypoplasia of the central nervous system with neurogenic atrophy of skeletal ...
Townes P L - - 1988
Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are ...
Berkenstadt M - - 1988
Congenital malformations involving the eyebrows are a rare phenomenon. Recently we have seen a case with partial duplication of the eyebrows and multiple other malformations. Because of the presence of close parental consanguinity, we believe this constellation of findings represents a new syndrome, possibly transmitted as an autosomal recessive disorder.
Weisselberg B - - 1988
A detailed account is given of a 19-month-old female infant with partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. Although the etiology is unknown, we believe this constellation of findings, which has been reported previously, represents a new congenital malformation syndrome.
Wilson G N - - 1988
The role of altered developmental timing or heterochrony in morphologic evolution has intrigued classical and modern biologists. Analogous manifestations of developmental asynchrony occur in human dysmorphogenesis where they illustrate the residue and repertoire of phylogenetic change. Certain single malformations such as holoprosencephaly immediately suggest heterochrony by their resemblance to antecedent ...
Winter R M - - 1988
A combinatorial method is described for grouping cases with multiple malformations for the purpose of identifying previously undescribed syndromes. This method includes ways of carrying out 'tight' or 'loose' grouping, of allowing for variability of reporting of physical features by different observers, and of minimising the number of 'spurious' groups. ...
Pinelli V - - 1988
The AA report a clinical and radiological study performed in 18 achondroplastic patients in order to achieve a nosological settlement of the otological impairments. They found two main otological syndromes; one, a congenital dysplasic syndrome, showing permanent conductive or sensory-neural hearing loss due to malformations of the middle ear or ...
Itoh N - - 1988
Chiari I malformation consists of variable downward displacement of the cerebellar tonsils. Quadriplegia, respiratory disturbance and pain are common in Chiari I malformation in adults. However, there are no reports of this syndrome in early childhood. We report the case of a 9-month-old girl with Chiari I malformation who had ...
Le Merrer M - - 1988
We report two sibships with children who had anophthalmia, multiple limb abnormalities, and consanguineous parents. The same association of malformations has already been reported. These further observations allow a better delineation of the syndrome and confirm its autosomal recessive mode of inheritance. We propose to name the syndrome ophthalmo-acromelic.
Boda D D Department of Paediatrics, University Medical School, Szeged, - - 1989
Increased attention to the malformation syndromatology is motivated by the importance of accurate diagnosis and its necessity in genetic counselling. Given the great number of malformation syndromes, it is logical to make use of computers in their ability perform differential diagnostics. The aim of our present examinations was to assess ...
von Overbeeke J J - - 1987
The authors present a patient with a large arteriovenous malformation in the temperoparietooccipital region of the dominant hemisphere that caused seizures, a homonymous hemianopia, and broad neuropsychological disturbances probably caused by a cerebral steal syndrome. There was no history of hemorrhage. Surgical resection resulted in marked improvement of neuropsychological function ...
Tolmie J L - - 1987
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 ...
de León G A - - 1987
Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten ...
Warburg M - - 1987
Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus ...
Hochman M - - 1987
Conradi-Hunerman syndrome, a variant of chondrodysplasia punctata, rarely presents with primary manifestations relevant to the head and neck surgeon. Usually, the disease is evidenced by malformation of the extremities, cataracts, cutaneous lesions, and an unusual facies. We have followed a child with Conradi-Hunerman syndrome for 7 years whose primary manifestation ...
Acquafredda A - - 1987
Sixteen children who were one day to 9 years of age underwent clinical, anatomic, and hormonal study because of extreme hypoplasia of the phallus and small testes associated with normal 46XY male karyotype. Two of them were first cousins. All patients had Leydig cell deficiency. Among 15 patients who received ...
Hori A - - 1987
The authors present two siblings suffering from Lennox-Gastaut syndrome. One of them also had the Dandy-Walker malformation. His seizures were difficult to control with anticonvulsant drugs, and somnolence and cerebellar ataxia easily occurred during administration of low dose anticonvulsants. On the other hand, his brother did not have this malformation, ...
Kleczkowska A - - 1987
In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1----p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker ...
Aricò M - - 1987
47,XXY chromosome complement is relatively frequent (1/750-1000 male newborns) but has so far not been reported in association with malformative syndromes. Three cases of 47,XXY karyotype associated with an unrelated malformative pattern, the Silver-Russell syndrome in two cases and Noonan syndrome in one case are reported. The possibility of a ...
Garn S M - - 1987
We have generated percentiles for the pattern variability index (sigma z) of the hand in 1,088 normal infants, children, and adults and have analyzed pattern variability indices for 820 individuals representing 50 congenital malformation syndromes with respect to the normal percentiles. The majority of the affected individuals exhibited elevated sigma ...
Meyerson M D - - 1987
Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia. Seven patients evaluated in this study had histories of early respiratory and feeding problems, micrognathia and absent velum, atretic ear canals and conductive hearing loss, upper and lower limb malformations, normal intelligence, and speech/language delays ...
Ueda N - - 1987
Meckel syndrome, which is diagnosed by 2 of 3 main congenital malformations such as a occipital encephalocele, polycystic kidneys, and polydactyly, is an autosomally inherited recessive disease. We have experienced a case of Meckel syndrome and performed necropsy. Necropsy findings revealed multiple congenital malformations with occipital meningo-encephalocele and agenesis of ...
Casamassima A C - - 1987
The Smith-Lemli-Opitz syndrome (SLOS) and the Meckel syndrome (MS) have been regarded as separate autosomal recessive entities. Recently, overlap of these two syndromes has been discussed. A sibship containing a probable new syndrome with features reminiscent of the SLOS and the MS is presented. The literature is reviewed with regard ...
Towfighi J - - 1987
Severe microcephaly was present from birth in a child with a 13q-chromosomal syndrome [46,XY,del(13)(q22q31)]. He died at 20 months of age. Neuropathologic findings included atelencephaly and eosinophilic cytoplasmic inclusions in cerebellar Purkinje cells. Ultrastructurally, the inclusions consisted of stacks of parallel cisternae separated by electron-dense granular material. The relationship between ...
Ritscher D - - 1987
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 parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient ...
Schwyzer U - - 1987
An overweight female newborn with multiple congenital anomalies died shortly after birth. The parents were cousins. The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately short limbs, transverse palmar creases, distal digital hypoplasia with hypoplastic ...
Nakamura Y - - 1987
Fifty cases of nonimmunologic hydrops fetalis found in Japanese infants are reported. Nonimmunologic hydrops fetalis is associated with various pathological conditions, twin transfusion syndrome including acardiac monsters, fetal heart diseases, congenital cystic adenomatoid malformation, pulmonary sequestration, pulmonary lymphangiectasia, intrauterine infections such as cytomegalovirus infection and neonatal hepatitis, congenital neuroblastoma, Kasabach-Merritt ...
Beneck D - - 1987
We have studied an infant with respiratory distress, absent fifth rays of the hands, and hydrometrocolpos. Congenital absence of the fifth ray of the hand is a rare malformation. In some syndromes the ulnar defects are symmetrical; however, as an isolated anomaly the defects are usually asymmetric. This patient's malformations ...
Wolfe M W - - 1986
Asplenia syndrome is a rare congenital complex of splenic agenesis, cardiac malformation, and malposition of the abdominal viscera. Prolonged functional survival is very uncommon, with death usually caused by severe infection or congestive heart failure. A 21-year-old man with typical asplenia syndrome who is currently asymptomatic and in his third ...
Johnsen T - - 1986
In the past the Mondini malformation of the cochlea has been described histologically on the basis of findings in one temporal bone from a patient with confirmed Pendred's syndrome. The present study presents the histological examination of six temporal bones from 5 patients with confirmed Pendred syndrome. The characteristic Mondini ...
Thomas I T - - 1986
The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome. We have seen seven cases of cryptophthalmos ...
Mimouni F - - 1986
We examined a newborn infant with multiple hamartomas, including an epidermal nevus syndrome and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage hamartoma, and a lipodermoid of the conjunctiva. This child had a ...
Kim H - - 1986
Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in ...
Koenig R - - 1986
Based on a personal observation and a review of the literature five cases with the so-called cryptophthalmos-syndactyly syndrome but without cryptophthalmos are presented. It appears that eye lesions are non-obligatory components of a pleomorphic condition which may be overlooked in the absence of the name-giving anomaly. The diagnosis of the ...
Sachdev J S - - 1986
We have described a case of Duane's retraction syndrome in association with well documented cerebral arteriovenous malformation. This syndrome has been previously reported in association with anomalies of other parts of the body, but perusal of pertinent literature did not disclose reports of such a combination as seen in our ...
Schell G - - 1986
A 27-year-old, right-handed woman underwent intraoperative embolization for a left parasagittal arteriovenous malformation as part of a two stage plan that included subsequent surgical resection of the arteriovenous malformation. This report describes the neurological syndrome that developed after the first procedure. The relation of these deficits to localization of function ...
Babcock D S - - 1986
A variety of congenital malformations of the brain can be diagnosed by cranial sonography. Those which alter macroscopic morphology can be recognized, the findings are similar to those seen on computed tomography and pneumoencephalography. The findings in the Chiari II malformation, agenesis of the corpus callosum, the Dandy-Walker syndrome, holoprosencephaly, ...
Heyer R - - 1986
Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD ...
Tagliavini F - - 1986
A first-time description is given of a unique combination of congenital deformities encountered in a female infant born in the 35th week of gestation and surviving for minutes only. The principal malformations comprised duplicity of the hypophysis cerebri and mammillary bodies, olfactory aplasia, agenesis of corpus callosum, Dandy-Walker syndrome, thoracolumbo-sacral ...
Shimozawa N - - 1986
Two cases of a complex brain malformation including the absence of a septum pellucidum and bilateral porencephaly were reported and compared with Aicardi's cases. The two cases have congenital hemiplegia or double hemiplegia and mental retardation, and one of them has optic atrophy. CT scans revealed the absence of a ...
Gencik A - - 1986
Two sisters and one brother are reported with a complex of congenital malformations, hypertelorism, mental retardation, flattened nasal root, divergent strabism++, mongoloid palpebral fissures, malformations of the ears, pathologic alterations of the eye-fundus in terms of optic nerve atrophy, all suggesting Greig syndrome. The major symptom of this syndrome, the ...
Joshi V V - - 1986
Previously unreported lung disease found at autopsy in 2 young infants with Down's syndrome and congenital heart disease (complete atrioventricular canal malformation with left-to-right shunt) is described. The perinatal and neonatal period was unremarkable, and there was no history of mechanical ventilation or administration of high concentration of oxygen for ...
Zimmer E Z - - 1985
An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in families with Roberts ...
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