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At least 343 records · Page 19Linked to original sources
PubMed1975

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.

Abnormalities, Multiple↗
PubMed1991

[The creation of a functional obturator plate by a direct method in the neonatal orthodontic treatment of cheilopalatoschisis].

The paper describes a simple direct method for the preparation of a functional filling plate in the neonatal orthopedic treatment of cleft palate harelip. This method allows the corrective plate to be realised so as to reproduce the complex deformed anatomical structure in the smallest detail, thus avoiding the major problems of acceptance, function and load distribution on the delicate neonatal mucosa.

Cleft Lip↗
PubMed1991

[Labio-maxillary and velopalatine clefts. Clinical and therapeutic aspects].

Harelip, facial cleft and cleft palate are frequent accidents of facial development. There is nothing special with their embryological mechanism, but their consequences concerning the future anatomy of the oral and nasal cavities are impressive. Owing to a better understanding of facial embryology and of the anatomical repercussions of the clefts, satisfactory morphological results can be obtained by surgical lip repair performed with an ever increasing precision.

Cleft Lip↗
PubMed1989

[Alar and columellar refinement in rhinoplasty].

This paper emphasizes the value of surgical techniques of nasal sculpturing with special attention to the structural details in primary and secondary rhinoplasty to achieve a perfect aesthetic as well as functional result. The marginal resection of the alae and the columella allows the appropriate reduction adapting the nostril contour to the new proportions of the nose at the end of a rhinoplasty or to equalize the height of the alar rim in cases of harelip nose. In order to perfect the nasal contour, we also introduce cartilaginous onlays into the anterior part of the columella emphasizing the lobulo-columellar double-angle in a harmonious profile. In case of moderate fibrocicatricial retraction of the alar border, a vestibular advancement flap is dissected through the inter-cartilaginous incision and a thin cartilage graft fills the loss of tissue as a spacer. It is then held in place using transalar mattress sutures. Important losses of alar tissue necessitating composite graft are not especially considered in the paper which essentially concerns refinement procedures. The finesse of the latter seems to be indispensable to adapt the alar-tip-columellar complex to the bony structures of the nose and to ensure the harmonious equilibrium of the rhinoplasty.

Esthetics↗
PubMed1989

[Improvised reconstruction of the esophagus in concurrent atresia and nonrotation].

In the course of three years, 1985-1987, 21 children with congenital atresia of the oesophagus were operated, incl. four where the oesophagus had to be replaced by the large intestine. Each operation had unforeseen complications, all children survived, however, and are thriving. The authors describe the case of a girl with atresia type Vogt 1 who had moreover hypochromic anaemia, was a twin, premature, hypotrophic and had harelip. During the planned operation when the oesophagus was to be replaced by the large intestine at the age of 8 months, it was, however, revealed that the child has a narrow mesenterium commune with incomplete rotation. They had to perform a completely modific and improvised selection of the portion of the gut for transposition, a part of the ileum and caecum with another portion, as only that portion could be transplanted with preservation of the nurture. The gut could not be stretched because of the short mesentery. The child is now two years after the operation and development corresponds to age.

Abnormalities, Multiple↗
PubMedDate not supplied

[Teratogenic effect of anticonvulsants with special emphasis on the fetal hydantoin syndrome].

A six-year-old child, whose mother had been taking Hydanphen tablets for 14 years, is presented. The child had a harelip and some other symptoms of the fetal hydantion syndrome. The mother became pregnant again, no abortion was advised, and she gave birth to a healthy child. A possible teratogenic effect of anticonvulsants is discussed.

Abnormalities, Drug-Induced↗
PubMed1983

Developmental deficiencies of the upper facial skeleton due to partial elimination of mesencephalic neural crest cells in the chick embryo.

With the aim to test the hypothesis that cells derived from the mesencephalic portion of the neural crest, are involved in the process of differentiation of various upper facial bones, in 41 chick embryos of the 6-somite stage (approx. 26 hours of incubation) the anterior and middle thirds of this part of the neural crest were partially eliminated by micro-laser irradiation, either unilaterally or bilaterally. Of the 14 embryos sacrificed at the age of 12 days, a number of 6 proved to have developed harelip and/or cleft palate conditions. In these embryos, in addition a reduction or absence of the maxillary, palatal, jugale and quadrato-jugale was observed. On the contrary, other facial bones as well as the first and second branchial arch cartilages proved to have developed normally. From these results the conclusion may be drawn that (a sufficient number of) cells from the anterior and middle thirds of the mesencephalic neural crest are indispensable for a normal differentiation of the maxillary, palatal, jugale and quadrato-jugale.

Animals↗
PubMed1982

Pregnancy in patients with prosthetic heart valves: an experience with 45 pregnancies.

Between 1974 and 1981, 27 patients became pregnant after prosthetic heart valve replacement with a total of 45 pregnancies. Four pregnancies terminated in therapeutic abortions. Of the remaining 41 pregnancies, 30 were associated with the use of anticoagulants and 11 not. Haemorrhage related to anticoagulant therapy occurred in one patient. The foetal loss in the group with anticoagulant therapy was 33 per cent (10 abortions) and that in the group without was 9 per cent (one abortion). The use of aspirin and dipyridamole during pregnancy (eight pregnancies) did not appear to threaten the outcome of pregnancy. A total of 30 babies were born alive and 20 per cent of them were light for date. There was no perinatal mortality. The typical warfarin embryopathy was not found. Congenital anomalies in four newborns included congenital hydrocephalus, harelip and complete cleft palate, bilateral accessory auricles and bilateral incurving 5th fingers. Subsequently, all except the newborn with congenital hydrocephalus showed normal developmental milestones.

Abortion, Spontaneous↗
PubMed1978

Amniochorionic bands and adhesions with fetal deformities.

The amniochorionic bands and adhesions in 2 malformed human fetuses are described. The anencephaly, left harelip with grossly distorted face, and rudimentary right upper limb of case 1, and multiple pits and cavities in the liver of case 2, are directly attributable to membranous adhesions. The toughness of the bands is indicative of their mesoblastic (chorionic) origin. The histolytic effect on the liver of case 2 may suggest a contact with the trophoblastic cells. The exomphalos of case 1, and extroversion of cloaca with other caudal defects of case 2, are possibly due to vascular and mesodermal deficits imposed by single umbilical artery.

Abnormalities, Severe Teratoid↗
PubMedDate not supplied

[The logic of a traditional health belief: solar eclipse and pregnancy in Ocuituco, Mexico].

An analysis of the logic of one of the commonest health beliefs in rural areas of Mexico is made, taking as a starting point testimonies collected in the area of Ocuituco, in the state of Morelos. This belief suggests that a pregnant woman is in danger of having a harelipped baby during a solar eclipse. The importance of the knowledge about the logic of this kind of beliefs is discussed from a public health perspective. These beliefs are associated with specific forms of suffering and give way to particular preventive measures which must be taken into account if the efficacy of health programs is to be increased. The interrelation of these beliefs with other traditional elements (such as the "loss of the shadow" and the "hot-cold theory") is discussed. Also, some of the already existing interpretations of this belief which seek to link the "loss of the shadow" with the solar eclipse belief are reviewed. Finally, an alternative interpretation of this belief is made from a structuralist methodological perspective. This interpretation is grounded in the Nahuatl myth on the creation of the sun and the moon, and in an analysis of the nature of rabbits in the Nahuatl culture, according to historic secondary sources. It is suggested that the belief about the danger of a solar eclipse must be interpreted in connection to the "hot-cold theory", but not to the "loss of the shadow". This paper concludes by emphasizing the importance of this type of research within the public health field, as it enables us both to understand the underlying logic of this type of conceptions, and to reinforce the dialogue between modern and alternative medicine, so that the daily encounter between these two types of medicine can be facilitated.

Cleft Lip↗
PubMed1994

[The choice of the surgical method in patients with liver injuries].

Results of clinical observations and anatomic-topographic investigations of an injured liver were analyzed. Liver laceration between portal complexes and the hepatic veins system without large vessels traumatization were observed in the closed injury. The mattress or harelip stitches were placed on the defect. In the case of hepatic parenchyma crushing the dissection of nonviable tissues with subsequent wound suturing and tamponade using omentum was conducted. In patients with a knife and bullet wounds and injuries of the large vessels and hepatic channels more complicated procedures were done.

Diagnosis, Differential↗
PubMed1994

[Experimental considerations of the mechanism of lip and palate fusion].

Although harelip, cleft palate, or both, are by far the most common major facial malformations, the mechanisms underlying their embryogenesis are only now beginning to be understood; this is due to the complexity of primary and secondary palate development and the fact that appropriate methods for study have only recently been developed. The authors present a review of the most significant data regarding the etiology of hare lip and cleft palate, both in their physiopathogenic aspects and in their clinical morphology. The peculiarity of these malformations is outlined, supported by literature data and personal experimental experience.

Animals↗
PubMed1998

[Meningoencephalocele. A report of 6 cases].

The paper deals with the study of 6 patients having this malformation. Four were nasofrontal, 1 nasoethmoidal and 1 occipital cases. The last associated to harelip and cleft palate. Two of them exhibited neurologic deficiency. All underwent surgery, 3 in two steps, through intracranial approach and section of the encephalic segment, followed by osteoplasty from iliac crest for replacement the flawed piece of cranial bone. Afterwards straight aesthetic reconstruction. As etiological causation is accepted the parents multifactorial action of nutritional imbalance, tobacconism and the effect of weed-killers--so much employed in our country--which set in motion, all of them, the output of free radicals acting upon DNA of germinative cells. In this way is breacked the H bonds, determining the congenital malformations on the offspring. Diabetes and dipsomania are rejected.

Child, Preschool↗