Showing papers on "Hypertelorism published in 1980"

Teratogenic effects of retinoic acid in pigtail monkeys (Macaca nemestrina). II. Craniofacial features.

Abstract: The teratogenic effects of retinoic acid, the alcohol-soluble acid form of vitamin A, on the craniofacial complex of 11 macaque (Macaca nemestrina) whose mothers had received the compound from days 20 to 44 are described. The fetuses ranged in gestational age from 81 to 185 days and exhibited features of the so-called retinoic acid syndrome (RAS). The syndrome includes both craniofacial defects and postcranial anomalies of the musculoskeletal and urogenital systems. The craniofacial anomalies were described with reference to gross external appearance and radiographic observations. The most frequent findings were cleft palate, malformed ears, hypertelorism, exophthalmos, hypoplasia of the bone of the mid-face and mandible, a curvature of the inferior border of the mandible, retrognathia, and distortion of the cranium. Lateral cephalograms on nine animals of the RAS sample were measured using six linear dimensions which define the cranial base, face height, palatal length, and mandibular length. The measurements were plotted relative to normal curves which describe growth of the dimensions through the macaque fetal period. For their age, the abnormal animals were small in the craniofacial region. The same measurements were then plotted relative to the size of the fetus, to investigate the possibility of a differential response of the various craniofacial areas to the teratogen. Mandibular length and anterior cranial base were the most reduced dimensions, followed by anterior and posterior face height, with palatal length the least affected. Comparison of the features of the RAS syndrome in the macaque fetus with those reported for various human mandibulofacial dysostosis syndromes yields similarities, but there are enough differences to indicate that the syndromes are not identical in the two species. The utility of the approach used, wherein several craniofacial dimensions of the abnormal are assessed relative to normal growth curves and relative to body size, is emphasized.

Autosomal recessive craniometaphyseal dysplasia.

Abstract: The autosomal recessive form of craniometaphyseal dysplasia was ascertained in two sibships with two affected individuals each. All four parents were normal and in one case they were consanguineous; both families were living in Caracas but had their origins in Tenerife Island (Canary Islands), although no genealogic link between them could be established. The age of the patients ranged from 6 to 14 years and the main clinical alterations were a thick bony wedge over the bridge of the nose, dystopia canthorum, ocular hypertelorism, enlarged malar prominences and mandible, wide alveolar ridges, dental abnormalities, and genu valgum; narrowing of the nasal passages led to mouth breathing. A slight, mixed hypoacusia was present in two patients; no other signs of cranial nerve involvement were detected. The cardinal radiographic features were hyperostosis and sclerosis of the calvarium, the base of the skull, and the facial bones and mandible; increased bone deposition on the walls of the paranasal sinuses; under-pneumatization of mastoid cells; cortical hyperostosis of the diaphyses of the short and long tubular bones, and gradual, club-shaped widening of the metaphyses, which had thin cortex and undermineralized medullary bone. The clinical and radiologic alterations had an increasing gradient of severity with age. The phenotype of recessive craniometaphyseal dysplasia is not clearly differentiated from the dominant form but easily so from two other recessive conditions with which it was formerly confused: Pyle disease and craniodiaphyseal dysplasia.

Trisomy 6q25→6qter in two sisters resulting from maternal 6;11 translocation

Abstract: Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down-turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25 leads to 6qter syndrome.

A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

Abstract: A syndrome of multiple anomalies associated with growth failure and delayed development is described. The facies appear distinctive with globular head, prominence of the eyes, hypertelorism, cleft palate, micrognathia, and abnormal pinnae. Other features include vertebral and costal anomalies, cardiac defects, and a peculiar malformation of the hands. At least five other cases of this condition, all occurring in males, may be found in medical reports. The finding of incomplete expression in three maternal relatives of our patient provides evidence for a genetic cause.

Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.

Abstract: A case of partial 3p trisomy is reported here. A review of published cases (8 males, 2 females, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal identation, square hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid-upper lip, micro- or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits. The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had 46,22,t(3;20(p21;13) karyotype - ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p 21) in the members of the proposita's family.

The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family.

Abstract: The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, (1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antomongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.

[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].

Abstract: Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.

Syndrome of hydrocephalus, costovertebral dysplasia and Sprengel anomaly with autosomal dominant inheritance.

Abstract: A malformation syndrome affecting a mother and her three daughters is reported. The patients showed various combinations of the following malformations and anomalies: spontaneously arrested communicating hydrocephalus, costovertebral dysplasia, Sprengel anomaly (undescended scapula), hypertelorism, broad and low nasal bridge, anteverted nostrils, low-set ears, high-arched palate, prominent mandibula, enamel hypoplasia and increased interspace between the 1st and 2nd toes. The occurrence of similar abnormalities in the mother and her three daughters and the variable expression of the manifestations indicate that the syndrome was inherited as an autosomal dominant trait.

Apert's Syndrome.

Abstract: A case of Apert's syndrome in a one year old female child is described and literature reviewed. She was the first born of a young couple. She had congenital syndactyl of toes and fingers, acro-cephalic skull, flat facies, exophthalmos, hypertelorism and greasy skin. In addition to the typical radiological features of this syndrome which the patient showed, thickened first metacarpals forked at the base were also seen. There were two phalanges for each toe. Calcification was seen intracranially. These radiological features have not been mentioned so far in the literature reviewed.

A case of partial trisomy 2p (region 2p21→2pter) derived from a maternal t(2;15)(p21;q26)

Abstract: A further case of partial trisomy 2p inherited from a maternal balanced translocation with a karyotype of 46,XX,t(2;15)(p21;q26) is reported. The female patient had an unbalanced karyotype with duplication of the distal part of the short arm of chromosome 2 (region 2p21→2pter). On the basis of the cytogenetic finding, clinical features of this patient were compared with those of the reported two cases with the similar duplication of region 2p21→2pter. The clinical features common to the three cases were hypertelorism, triangular face, large abnormal ears, congenital heart defect and long fingers, but microcephaly, prominent nasal bridge and long toes noted in the reported cases were replaced with hydrocephalus, wide, flat nasal bridge and short toes in the present case.

A new case of pentasomy X

Abstract: Cytogenetic investigations of children with psychomotor retardation gave evidence of pentasomia X in a twelve-month-old girl. The chromosome analysis made on the basis of lymphocyte cultures showed a 49,XXXXX caryotype; up to four X-chromatin masses were found. Total ridge count (TRC) was diminished to the very low value of 15. The clinical symptoms of our case were compared with the others published in earlier papers. In accordance with the other authors we found a low birth weight, oligophrenia, multiple abnormalities of the craniofacial skeleton (hypertelorism, epicanthus, broad root of the nose, oblique axis of the eyelids), and some minor deformities of the fingers and toes. Less common signs of the syndrome are malformations of the heart and probably the hemiatrophy, especially of the face, a rather pronounced finding in our case.

Improving results in orbital hypertelorism correction

Abstract: Between 1971 and 1977, 40 patients with orbital hypertelorism were operated on by the craniofacial team in Toronto. Results have improved as a result of this experience. Tomography in two planes has revealed four types of medial orbital wall deformity. Cephalographs proved inader quote to understand this three-dimensional problem. Mobilization of the orbits and their correct realignment, with removal of the precise amount of interorbital bone, are only preliminary steps in producing good results. Different techniques for reattachment of the medial canthal ligament, correct orientation of the lateral canthus, changes in methods of nasal skin excision, and the elimination of other facial or eyelid scars are helping to produce more normal looking patients. Simultaneous major intra-oral procedures have been the greatest source of complications. Limitation of this surgery to one team has given sufficient experience to enable a diminution in morbidity and a halving in blood loss and time taken for the operation.

[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)].

Abstract: This patients is a 48-day-old girl, born as the third child from a 29-year-old healthy mother. The pregnancy was uneventful, and the delivery was normal. Right after birth, she had episode of asphyxia for several minutes. Her weight of birth was 2,600 g, and the head circumference was 30.4 cm. Dyspnea and cyanosis after feeding were noted on the second day. At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease. Other abnormalities such as umbilical hernia, prolapsus ani, dislocation of the hip joint, and lumbosacral meningomyelocele. Cerebral angiogram demonstrated no pathological findings. Pneumoencephalogram showed accumulation of air at the cranial base. Operation was performed for repair of meningomyelocele at the age of 50 days. Postoperative course was smooth.

[Increase of LDH A and partial trisomy 11p (author's transl)].

Abstract: An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.