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BMJ Case Reports May 2014A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks...
A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Birth Weight; Chromosome Disorders; Chromosomes, Human, Pair 22; Ductus Arteriosus, Patent; Eye Abnormalities; Fatal Outcome; Female; Heart Defects, Congenital; Heart Septal Defects, Atrial; Heart Ventricles; Humans; Infant, Newborn; Microcephaly; Monitoring, Physiologic; Term Birth; Ultrasonography
PubMed: 24842361
DOI: 10.1136/bcr-2014-203923 -
Neurology India 2022
Topics: Humans; Child; Nervous System Malformations; Cerebellum; Fetus; Developmental Disabilities; Magnetic Resonance Imaging
PubMed: 36352699
DOI: 10.4103/0028-3886.359198 -
Ultrasound in Obstetrics & Gynecology :... Oct 2000This review describes the pathogenesis of pulmonary hypoplasia and highlights its clinical, radiological and pathologic features, with emphasis on... (Review)
Review
This review describes the pathogenesis of pulmonary hypoplasia and highlights its clinical, radiological and pathologic features, with emphasis on oligohydramnios-related pulmonary hypoplasia. Since pulmonary hypoplasia may lead to severe respiratory distress immediately after birth and even to neonatal death, an accurate and patient-friendly prenatal test for early detection and distinction between lethal and non-lethal pulmonary hypoplasia is still highly desirable. An extended overview of the proposed methods for the prenatal prediction of pulmonary hypoplasia is presented.
Topics: Female; Humans; Incidence; Lung; Lung Volume Measurements; Pregnancy; Prognosis; Pulmonary Circulation; Risk Factors; Survival Rate; Ultrasonography, Doppler, Color; Ultrasonography, Prenatal
PubMed: 11169336
DOI: 10.1046/j.1469-0705.2000.00252.x -
European Journal of Paediatric Dentistry Sep 2018Tooth structure anomalies affect the deciduous or permanent dentition with varying degrees of severity, depending on the odontogenesis phase in which the disturbance...
Tooth structure anomalies affect the deciduous or permanent dentition with varying degrees of severity, depending on the odontogenesis phase in which the disturbance factor occurs. Some forms are clearly increasing and becoming of common clinical observation, as is the case of MIH (Molar Incisor Hypomineralization) whose prevalence ranges from 3 to 25%. However, often stucture anomalies are still under-diagnosed. Early diagnosis should be within the reach of all clinicians (both dentist and non-dentist), and is essential for improving the treatment outcome and quality of life of affected patients. The objectives of treatment consist in the resolution of the symptoms and in the aesthetic, morphological and functional restoration of the affected teeth, which can be achieved with a multidisciplinary approach. Therefore, in order to prevent damage to the teeth with structure anomalies, early visits and close follow-ups are necessary. In children the first dental visit is recommended at the age of 3-4 years, however in the presence of important dental abnormalities of the deciduos dentition, the paediatrician or the parents should request a visit even at a younger age. Because of the sensitivity that is often associated with these disorders, in fact, daily tooth brushing is often inadequate. It is therefore important to inform the parents and instruct them to intervene in order to maintain proper oral hygiene. Finally, special attention should also be paid to the diet, which should not be cariogenic and exclude foods and drinks with acidic pH. Perhaps it would be appropriate to share this information with the paediatricians and general practitioners we collaborate with: I am sure that a better knowledge of this dental condition will translate into an even earlier diagnosis and improved treatment outcomes for our (and their) patients! What are your thoughts about it?
Topics: Child, Preschool; Dental Enamel Hypoplasia; Diet; Early Diagnosis; Humans; Molar; Oral Hygiene
PubMed: 30063146
DOI: 10.23804/ejpd.2018.19.03.1 -
Clinics in Orthopedic Surgery Mar 2012Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint.... (Review)
Review
Pollicization substitutes a functioning finger for a deficient thumb. The most indication is thumb hypoplasia with absence or instability of the carpometacarpal joint. However, there are additional causes that may negate thumb function, such as trauma, macrodactyly, multi-fingered hand, and a mirror hand. The technique of pollicization represents a consolidation of contributions from surgeons over the last 100 years. A meticulous stepwise approach from incision to closure is necessary to optimize outcome. Following pollicization, cortical plasticity and motor relearning play a pivotal role in function following pollicization with connections and adjacent sprouting from nearby cortical and/or subcortical territories. Occupational therapy is necessary to encourage large object acquisition followed by smaller objects and ultimately fine pinch. Pollicization is more reliable in patients with isolated thumb hypoplasia and a mobile index finger with robust extrinsic and intrinsic muscle-tendon units compared to and patients with radial forearm deficiencies and diminished index mobility.
Topics: Fingers; Hand Deformities, Congenital; Humans; Orthopedic Procedures; Plastic Surgery Procedures; Thumb
PubMed: 22379553
DOI: 10.4055/cios.2012.4.1.18 -
American Journal of Human Genetics May 2022Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor...
Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or early atrophy of the cerebellum and brainstem, leading to a very limited motor and cognitive development. Although over 20 genes have been shown to be mutated in PCHs, a large proportion of affected individuals remains undiagnosed. We describe four families with children presenting with severe neonatal brainstem dysfunction and pronounced deficits in cognitive and motor development associated with four different bi-allelic mutations in PRDM13, including homozygous truncating variants in the most severely affected individuals. Brain MRI and fetopathological examination revealed a PCH-like phenotype, associated with major hypoplasia of inferior olive nuclei and dysplasia of the dentate nucleus. Notably, histopathological examinations highlighted a sparse and disorganized Purkinje cell layer in the cerebellum. PRDM13 encodes a transcriptional repressor known to be critical for neuronal subtypes specification in the mouse retina and spinal cord but had not been implicated, so far, in hindbrain development. snRNA-seq data mining and in situ hybridization in humans show that PRDM13 is expressed at early stages in the progenitors of the cerebellar ventricular zone, which gives rise to cerebellar GABAergic neurons, including Purkinje cells. We also show that loss of function of prdm13 in zebrafish leads to a reduction in Purkinje cells numbers and a complete absence of the inferior olive nuclei. Altogether our data identified bi-allelic mutations in PRDM13 as causing a olivopontocerebellar hypoplasia syndrome and suggest that early deregulations of the transcriptional control of neuronal fate specification could contribute to a significant number of cases.
Topics: Animals; Brain Diseases; Brain Stem; Cerebellum; Developmental Disabilities; Histone-Lysine N-Methyltransferase; Humans; Mice; Mutation; Nervous System Malformations; Neurogenesis; Purkinje Cells; Transcription Factors; Zebrafish
PubMed: 35390279
DOI: 10.1016/j.ajhg.2022.03.010 -
Transactions of the American... 1981Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic... (Review)
Review
Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome.
Topics: Adolescent; Adult; Blindness; Child; Child, Preschool; Europe; Female; History, 19th Century; History, 20th Century; Humans; Hypopituitarism; Infant; Infant, Newborn; Male; Middle Aged; Ophthalmology; Optic Nerve; Septum Pellucidum; Syndrome; Tomography, X-Ray Computed; United States
PubMed: 7043865
DOI: No ID Found -
The British Journal of Ophthalmology Dec 1987Fifteen patients presented with foveal hypoplasia as an isolated ocular finding. The characteristic findings associated with this entity are a visual acuity of 6/21 or...
Fifteen patients presented with foveal hypoplasia as an isolated ocular finding. The characteristic findings associated with this entity are a visual acuity of 6/21 or worse, nystagmus, and a typical ophthalmoscopic appearance of the macular area, including absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area, some of them even crossing the horizontal meridian. Fluorescein angiography revealed a variable and incomplete filtering effect of the choroidal fluorescence in the macular area, suggesting abnormalities in the amount and distribution of macular pigments. The fundal findings of isolated foveal hypoplasia, although typical, are very subtle and often difficult to detect, especially because of the accompanying nystagmus. For this reason we suspect that foveal hypoplasia may be more common than is generally believed.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Fluorescein Angiography; Fovea Centralis; Humans; Macula Lutea; Male; Middle Aged; Nystagmus, Pathologic; Pedigree; Vision Disorders; Visual Acuity
PubMed: 3427001
DOI: 10.1136/bjo.71.12.926 -
Journal of Dental Research Sep 2013Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are... (Comparative Study)
Comparative Study
Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.
Topics: Adult; Black or African American; Apgar Score; Cohort Studies; Delivery, Obstetric; Dental Caries; Dental Enamel; Dental Enamel Hypoplasia; Educational Status; Female; Follow-Up Studies; Gestational Age; Hispanic or Latino; Hospitalization; Humans; Incidence; Infant; Infant, Newborn; Infant, Very Low Birth Weight; Male; Marital Status; Maternal Age; Ohio; Respiration, Artificial; Retrospective Studies; Smoking; Social Class; White People
PubMed: 23857641
DOI: 10.1177/0022034513497751 -
The Journal of Maternal-fetal &... Dec 2023We have previously described gestational-age-independent sonographic indices to assess fetal lung size in the right and left lungs: The Quantitative Lung Index for the...
OBJECTIVES
We have previously described gestational-age-independent sonographic indices to assess fetal lung size in the right and left lungs: The Quantitative Lung Index for the right lung (QLI-R) and for the left lung (QLI-L), respectively. The purpose of this study was to evaluate the clinical cutoff point of the QLI-R to predict pulmonary hypoplasia and neonatal death.
MATERIALS AND METHODS
Retrospective assessment of the QLI-R in patients with left-sided congenital diaphragmatic hernia (CDH-L) and other fetal conditions at risk for fetal pulmonary hypoplasia. Cross-section and longitudinal assessment of the behavior of the QLI-R in untreated and treated patients. ROC curve analysis to determine the optimal cutoff point of the QLI-R in predicting neonatal death.
RESULTS
One hundred eighteen patients with CDH-L and other fetal conditions at risk for pulmonary hypoplasia had QLI-R measurements done. Seventeen patients were excluded for various reasons. Eleven patients with conditions other than CDH-L but at risk for pulmonary hypoplasia were used for intraclass coefficient measurements of the QLI-R. Ninety patients had CDH-L, of which 78 did not undergo antenatal intervention and in which the cutoff point for pulmonary hypoplasia and neonatal demise was assessed. Stent tracheal occlusion was performed in the remaining 12 patients with CDH-L, in which the behavior of the QLI after surgery was assessed. Analysis of the ICC showed an overall intra-rater reliability of 0.985 (Cronbach's Alpha-based). There was no correlation between gestational age and QLI-R (-0.73, Pearson correlation, = .72). Twenty-six of the 78 patients (33%) with CDH-L managed expectantly had a neonatal demise. A QLI-R equal to or less than 0.45 was significantly predictive of neonatal demise (area under the curve 0.64, = .046, sensitivity 77%). Nine of the 12 patients (75%) that underwent tracheal occlusion had neonatal survival. Of these, 10 had serial assessments of the QLI-R after surgery. An increase in the QLI-R of 0.11 was associated with a tendency for neonatal survival ( = .056).
CONCLUSION
Our study confirms that the QLI-R is a gestational-age-independent measurement of fetal lung size, with a high degree of reproducibility. In a population of expectantly managed CDH-L patients, a cutoff value of the QLI-R of 0.45 or lower is predictive of neonatal death from pulmonary hypoplasia. The QLI-R can be used to monitor fetal lung growth after tracheal occlusion, and an increase in the QLI-R is suggestive of neonatal survival. Further prospective studies are needed to confirm these findings and to explore the use of the QLI in other populations at risk for pulmonary hypoplasia and consequent neonatal demise.
Topics: Infant, Newborn; Humans; Female; Pregnancy; Reproducibility of Results; Retrospective Studies; Perinatal Death; Prenatal Diagnosis; Lung; Hernias, Diaphragmatic, Congenital; Fetal Diseases; Ultrasonography, Prenatal
PubMed: 37580087
DOI: 10.1080/14767058.2023.2242555