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[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Abnormalities, Multiple↗

[Regulatory disorders in early childhood. Family physician counseling for crying, sleeping and feeding disorders].

Early childhood regulatory disorders account for the most common behavioral abnormalities of the infant and young child that result from regulatory problems associated with age-specific adaptational and developmental tasks. Increasing empirical evidence indicates that these problems need to receive full attention. If left to themselves, such disorders impair the early parent-child relationship, and increase the risk for disturbances later on in life. In most cases, the family doctor is the first person to be consulted by the infant's parents who are unable to cope with excessive crying, sleeping or feeding disorders. A range of proven methods are available to support counseling on child development in the physician's office.

Age Factors↗

A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up.

A record of a natural history of a long-term case study devoted to monosomy 5p (Cat-cry/Cri-du-chat) syndrome has been described rarely. Knowledge on the range of the changes in phenotype attributable to advancing age can be useful in clinical diagnosis of monosomy 5p at the different developmental stages, including adolescence, as well in prognosis for genetic counseling. In this case a detailed analysis of the morphologic phenotype in a girl with del(5)(p13.3) observed from 4 months to 18 years of age is reported. The comparative analysis of the girl's phenotype in different developmental stages has revealed that microcephaly, flat occipital region, face asymmetry, wide spaced palpebral fissures, epicanthic folds, small mouth fissure, thin mucous lip, small and low set ears and short IV metacarpals has not changed with advancing age. However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared.

Child↗

Ante partum bed rest and unexplained infantile crying.

AIM: The aim of this study was to assess whether bed rest during pregnancy is a risk factor for infantile colics. METHODS: In a previous paper a questionnaire was administered to 86 women (43 of whom had stayed in bed during pregnancy for a mean of 3.4+/-1.2 months, and 43 were controls) about the clinical history and the present state of their 11-15 year old babies. In the present paper we traced these women and assessed the presence/absence of unexplained infant crying (UIC, infantile colic), diagnosed by a physician in the first year of life of these children. Forty mothers answered the inquiry, and we compared their answers with 40 control mothers. RESULTS: Babies born after maternal bed rest during pregnancy had a higher incidence of UIC than the control group (26/40 vs 11/40; P=0.0015). No significant correlation was found between UIC and allergies or between UIC and maternal or artificial breast feeding. CONCLUSIONS: Our retrospective study shows a possible association between bed rest and UIC: further studies, including other important variables (stress, drugs, smoking) are needed.

Bed Rest↗

Wolf-Hirschhorn and Cri du Chat syndromes resulting from familial translocations: 3 further examples of the Bp monosomy epistatic effect.

Two malformed newborns with the typical Wolf-Hirschhorn syndrome (WHS) resulting from familial balanced translocations t(4;11)(p153;p154) and t(4;18)(p152;q23) respectively, are presented. A third child with the Cri du Chat syndrome and der(5), t(2;5)(q333;p141) is reported. These three cases give further support to the epistatic hypothesis at the chromosomal level of the Bp monosomies over other partial autosomal trisomic syndromes.

Chromosome Deletion↗

[Cri-du-chat disease: plasma and urinary amino acids].

Ten cases of cri du chat disease due to a del(5)(p14p15) were observed. A highly significant excess of the plasmatic and urinary relative amount of asparagine + aspartate was detected. A highly significant excess of the relative amount of histidine was also noted in the urine but not in the plasma. Excess of asparagine + aspartate could be related to a disorder of purine metabolism. The urinary excess of histidine could be related to a disorder of the aminoacid catabolism.

Adolescent↗

[Prognosis in the cri-du-chat syndrome].

Cri-du-chat syndrome (5p-) is one of the most frequently occurring chromosomal deletion syndromes in man. Clinical findings have been described extensively in literature, but documentation of the patients' mental development has been poor. Recently the clinical heterogeneity and variance in psychomotor development was studied in a large series of patients. Review of the literature revealed that some 15% of the cases were found to be familial, there appears to be a slight correlation between karyotype and phenotype and the positive effects of early stimulation programs on the patients' prognosis is pointed out. Some 60% of the patients need regular medical care and nearly all are mentally retarded. However a wide spectrum of developmental abilities is displayed and a number of patients can be reared at home for several years. Life expectancy depends on the number and severity of birth defects.

Child Development↗

[Asymmetric crying facies syndrome].

We report four cases with syndrome of asymmetric crying facies, analyzing particularly the etiology, embryology, and incidence of the congenital hypoplasia of depressor anguli oris muscle. In one of the cases, with multiple malformations, the patient had an abnormal karyotype, 47,XX, +i(18p). We stress the high incidence of associations with congenital malformations (eight fold the general population) and more specifically with congenital heart disease, musculoskeletal, and genito-urinary defects. The diagnosis of MDAO agenesis is basically clinic, being as differential diagnosis the paralysis of the 7th cranial nerve, defining it with electrophysiological techniques.

Abnormalities, Multiple↗

Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14.

The general and ocular signs in patients with deletion of the short arm of chromosome 5 (cri du chat) and ring chromosome 14 have been reported previously in the literature. Ophthalmic changes recorded in the latter anomaly are scanty. We describe a patient with the combined chromosomal anomaly--a deletion of part of the short arm of chromosome 5 and a ring chromosome 14 which hitherto has not been reported.

Child↗

Cri du chat-syndrome in combination with partial trisomy 9 p.

A partial monosomy 5p leading to the Cri du chat-Syndrome combined with a partial trisomy 9p was observed in a mentally defective boy with typical clinical features for both syndromes. This chromosomal aberration is inherited from a t [5; 9] (p. 13.3; 13.1) translocation carrier father. Further family investigations showed many balanced translocation carriers through several generations.

Abnormalities, Multiple↗

Infant crying and maternal responsiveness: a rejoinder to Gewirtz and Boyd.

The criticisms leveled by Gewirtz and Boyd focus on 1 of 6 analyses upon which Bell and Ainsworth based their interpretation of findings--namely, cross-quarter correlations of measures of infant crying and maternal response. It is maintained that these measures were approximate, and that they were independent of each other in cross-quarter correlations. It is also maintained that the statistical procedures were appropriate to a small sample of subjects in naturalistic, longitudinal research. The three "illustrative" cases offered by Gewirtz and Boyd as ways of testing a contrary hypothesis are considered. These cases assumed maternal behavior patterns which, it is argued, do not occur. Finally, other evidence is cited, both from other studies and from within the Bell-Ainsworth paper itself, that supports the interpretation that Gewirtz and Boyd claim to have been unjustified.

Conditioning, Operant↗

Infant crying and stability in the mother-infant relationship: a systems analysis.

Mother-infant interaction was studied using a general systems theory framework. 20 mother-infant pairs were observed in their home for a 7-hour period when the infants were 2, 3, 4, and 5 weeks of age. A measurement procedure was devised to assess, for each pair, the consistency over weeks in their allocation of time to 4 interactional contexts that make up the day: feeding, changing or bathing, social attention, and baby alone. The measure was called an Interactional Stability Score. Construct validity for this measure was investigated based on our hypothesis that high interactional stability would be strongly linked to low levels of crying during social attention. This hypothesis was confirmed. The results are interpreted within a general systems theory perspective--namely, that this measure of interactional stability is an empirical indicator of the degree of equilibrium within the relationship, at the level of patterning of interactional contexts. High stability scores represent consistency in allocation of time to the 4 contexts over weeks and not a rigidity in sequencing of these contexts, and thus appeared to reflect a dynamic process of mutual constraints on the behaviors of both partners.

Child Development↗

[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother].

The case studied is taken to emphasize the high risk of anomalous progeny being delivered from couples, who are the balanced translocation carriers. The "cri du chat" syndrome was diagnosed in a woman carrier of the balanced reciprocal translocation t(5, 18) (5p13; 18p11) during two successive pregnancies: the diagnosis was postnatal in the first pregnancy, and prenatal in the second. The prenatal diagnosis of the 5p--syndrome was made in amniotic fluid cell culture and verified in fetal skin culture obtained through fetal biopsy. A wider network of prenatal diagnosis services, primarily for couples carrying balanced chromosome rearrangements, could greatly contribute to the task of preventing severe hereditary diseases.

Abortion, Induced↗

The crying baby--why colic?

All babies cry, but the mother unable to satisfy her infant's distress may experience doubts as to her own mothering ability. Yet 'colic' is often used to explain away many problems of the infant. But to accept such a diagnosis denies mother and infant help at this difficult time.

Colic↗

[Brain morphometry using MRI in Cri-du-Chat Syndrome. Report of seven cases with review of the literature].

The authors present the results of a morphometric study of the brain of 7 patients with cat cry syndrome, explored with Magnetic Resonance Imaging (MRI). A method is proposed in order to facilitate the identification of the anatomical slices. A characteristic anomaly is observed as a marked atrophy of the brainstem predominating at the pontine level and associated with a small cerebellum, atrophic middle cerebellar peduncles and cerebellar white matter. This apparently systematized atrophy obvious in children, seems similar to the one observed in patients presenting a olivopontocerebellar atrophy, possibly correlating with disturbance of coordination and developmental delay in motility as observed in these patients. This does not implicate the same subjacent functional neuroanatomical pathways.

Adolescent↗

[Crying epilepsy].

Crying epilepsy, consisting of the appearance of tears as an epileptic phenomenon, is apparently somewhat infrequent. In most cases which it has been possible to record, electroencephalography (EEG) indicated a right temporal focus. These findings have lent weight to the theory of the existence of hemispheric emotion control. We present two cases in which tears were one of the clinical signs of epilepsy. In one of the cases EEG showed left temporal focus.

Adult↗

[Asymmetric crying facies syndrome: report of 16 clinical cases].

The Asymmetric Crying Facies (ACF) is included among the congenital facial palsy in childhood. We report the clinical characteristics, congenital anomalies and other associated disorders in sixteen patients with ACF examined from 1984 to 1995 in the pediatric units of the Hospital Adolfo Pons, Universitario and Clínico of Maracaibo, Venezuela. Statistically the side of lesion and the sex were independent. In seven of sixteen patients (43.75%) we found congenital anomalies and/or neurological disorders, being diaphragmatic hernia and the hyperkinesia a rare association no reported up to now in the reviewed literature. We suggest autosomal dominant inheritance with reduced penetrance in three of sixteen families. The other patients were sporadic cases.

Child↗