Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourty-four cleft palate children consecutively referred to a plastic surgery unit were treated with palate repair at one year of age by one surgeon. The children were not routinely treated with ventilating tubes for middle ear disease. At 3 years of age they were investigated for aural pathology. Also specific antipneumococcal antibody activity was measured and was found to be compatible with the activity found in healthy age-matched control children. In the cleft palate children with no immaturity of the immune system only a slight increase in frequency of acute otitis media was evident. One third of the children had however suffered from long-standing secretory otitis media which can be regarded to be more common than what has been found in the normal population in several epidemiologic studies. At 3-4 years of age 82% of the children had a normal hearing indicating an improvement of the condition.
 ...
PMID:Middle ear disease in cleft palate children at three years of age. 159 56

The classical description of the Pierre Robin syndrome includes micrognathia, glossoptosis, airway obstruction, and usual presence of a cleft palate. The Pierre Robin syndrome is currently defined as the combination of retrognathia, cleft palate, and respiratory distress. This last is mixed, with a peripheral component due to glossoptosis and a central component due to brain stem immaturity. The main ocular manifestations found in the Pierre Robin syndrome are congenital glaucoma and severe congenital mypopia responsible for retinal detachment. Microphthalmia is infrequent. We report the case of a neonate with severe Pierre Robin syndrome and major microphthalmia documented by CT scan.
 ...
PMID:[Ophthalmologic manifestations of the Pierre Robin syndrome. Report of a case of microphthalmia]. 231 60

The Pierre Robin Syndrome is characterized by three defects (8,9): micrognathia, cleft palate and glossoptosis responsible for respiratory failure. The new definition of this syndrome associates retrognathia, cleft palate and respiratory distress. This respiratory distress is mixed: obstructive due to glossoptosis, and central, secondary to brainstem immaturity (1,2). The main ocular manifestations associated with the syndrome are congenital glaucoma, high congenital myopia and retinal detachment. Microphtalmia has already been reported, but is infrequent. We present a clinical case of a major microphthalmia in a Pierre Robin Syndrome, confirmed by CT scan exploration.
 ...
PMID:[Microphthalmos in Pierre Robin syndrome. Clinical and x-ray computed tomographic study]. 269 74

Fifty-eight pairs of parents of cleft lip/palate children, and fifty-eight classroom teachers of the children rated the child's behavior along four dimensions: conduct, personality, inadequacy-immaturity, and socialized delinquency. Results indicated that mothers and fathers rated conduct problems, personality problems, and socialized delinquency problems to change as a function of the child's age. There were no significant differences between mothers' and fathers' ratings of behavior: however, teacher ratings differed significantly from the parents. Implications for these findings are discussed.
Cleft Palate J 1984 Jul
PMID:The behavior of the child with cleft lip and palate as perceived by parents and teachers. 659 63

The authors report the case, non forming part of any known syndrome, of a newborn with encephalocele, high cranial schisis, ocular anomalies, cleft palate and congenital clubfoot. The photographic documentation of the malformations is not possible due to a technical error in taking the photographs (lack of light in the room). Alterations to cerebral nervous tissue were histologically and cytologically characterised by immaturity and block of normal development during the early stages. For this reason the alteration of primary neuro-ectodermal tissue appears to be the initial factor with secondary involvement of anatomically and functionally contiguous fields and tissues, such as cranial bones and the eyes. The alteration of the nervous system resulted in the incapacity of the fetus to make fetal movements, making it vulnerable to extrinsic compression, above all uterine pressure. This led to the adoption of fixed postures with articular blockage most evident in the lower limbs (congenital clubfoot). The pathogenic noxa was not identified.
 ...
PMID:[Evaluation of pathogenesis of encephalocele, high spina bifida and congenital clubfoot not forming part of any known syndrome: a case report]. 876 76

Infants with cleft palate (CP) display eustachian tube (ET) dysfunction. This study compared the postnatal development of the volume of ET cartilage in 34 normal cases and 10 CP cases using a personal computer. In cases with age under 1 month old, the total volume of ET cartilage was 61.94+/-20.89 mm(3) (mean+/-S.D.) in 16 normal control cases and 50.07+/-24.69 mm(3) in nine CP cases (t-test, not significantly different from normal). The ratio of lateral lamina (LL) to medial lamina (ML) volume (LL/ML) was reduced significantly (t-test, P<0.001) from 0.23+/-0.07 in 16 normal control cases to 0.09+/-0.05 in nine CP cases under 1 month old. In 34 normal ET cases whose ages were under 20 years, statistically significant positive correlations were found between the total volume of ET cartilage (y1) and age (x), volume of LL (y2) and age, and volume of ML (y3) and age (P<0.01, r=0.731, 0.614, 0.719). The regression lines were y1=20.37x+95.57, y2=2.02x+15.60, and y3=18. 35x+79.97. With the result obtained from this study, it is assumed that immaturity of the ET cartilage in infants, especially that of LL of the ET cartilage in CP infants, may be a significant risk factor for developing otitis media with effusion.
 ...
PMID:Postnatal development of eustachian tube cartilage. A study of normal and cleft palate cases. 1069 37

p57Kip2, one of the cyclin-dependent kinase (CDK) inhibitors, has been suggested to be a tumor suppressor candidate. To elucidate its biological roles in mouse development and tumorigenesis, we created p57Kip2-deficient mice. The p57Kip2-deficient mice exhibited a cleft palate and defective bone formation resulting in severe dyspnea. Most of the p57Kip2-deficient mice died within 24 h after birth, while about 10% of them survived beyond the weaning period. All of the surviving mice showed severe growth retardation. The males showed immaturity of the testes, prostate and seminal vesicles, and the females showed vaginal atresia, immaturity of the uterus, and an increased number of atretic follicles. Although Yan et al. and Zhang et al. have already reported p57Kip2-deficient mice, they could not investigate the phenotypes of the surviving p57Kip2-deficient mice. Also, most of the symptoms of Beckwith-Wiedemann syndrome could not be reproduced in the mutant mice. Embryonic fibroblasts prepared from p57Kip2-deficient mice showed no differences in the proliferation rate and saturation density, suggesting that G1 arrest is largely independent of p57Kip2 function. Our results suggest that p57Kip2 plays a critical role in development, but do not support the hypothesis that the p57Kip2 gene is a tumor-suppressor gene or is responsible for Beckwith-Wiedemann syndrome.
 ...
PMID:Mice lacking a CDK inhibitor, p57Kip2, exhibit skeletal abnormalities and growth retardation. 1073 69

Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may develop a wide range of distinctive features that include cleft lip and/or palate, cervical aplastic skin defect, malformed pinna, and ocular anomalies. This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The four cases included two familial and two sporadic, and three have been followed since the birth. Two out of the four cases showed atypical features. One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. Another patient had as an additional feature a hypoplastic thumb with distal implantation.
Cleft Palate Craniofac J 2012 May
PMID:Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports. 2153 71

Chondromyxoid fibroma is a rare bony tumor that usually presents in the lower extremities of middle-aged adults. Involvement of the craniofacial skeleton is extremely rare. We present the unique case of an adolescent boy with a chondromyxoid fibroma of the mandible. The chondromyxoid fibroma in this patient recurred after initial treatment with curettage. We treated the recurrence with resection of the involved mandible and immediate reconstruction using a vascularized musculo-osseus seventh rib flap ("Eve procedure"). Despite complex reconstruction in adolescents due to skeletal immaturity, the rib flap has successfully grown with the patient up to 3 years postoperatively. Therefore, we believe the musculo-osseus rib flap is a feasible solution for complex ramus and condyle reconstruction of the growing mandible in the adolescent patient.
Cleft Palate Craniofac J 2015 Mar
PMID:Chondromyxoid fibroma of the mandible in an adolescent: case report and microsurgical reconstructive option. 2462 23