Cargando…

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report

Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Basani, Laxman, Aepala, Roja, Macha, Naresh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Pediatric
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319101/ https://www.ncbi.nlm.nih.gov/pubmed/30662210 http://dx.doi.org/10.4103/ijri.IJRI_173_18

Ejemplares similares

Campomelic dysplasia
por: Goyal, Jagdish P., et al.
Publicado: (2011)

Congenital diaphragmatic hernia, Meckel's diverticulum and malrotation in a 3-month-old infant
por: Basani, Laxman, et al.
Publicado: (2016)

Intestinal Obstruction due to Ileal Duplication Cyst and Malrotation in a Preterm Neonate
por: Basany, Laxman, et al.
Publicado: (2015)

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
por: Calvache, Carlos A., et al.
Publicado: (2022)

Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
por: Qiao, Xingxing, et al.
Publicado: (2023)

Vitamin D and IL-10 Deficiency in Preterm Neonates With Bronchopulmonary Dysplasia
por: Mao, Xiaonan, et al.
Publicado: (2018)

A Case of Campomelic Dysplasia without Sex Reversal
por: Kim, Hyoung-Young, et al.
Publicado: (2011)

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
por: Pasupathy, M., et al.
Publicado: (2016)

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia
por: Debuf, Marie‐Julie, et al.
Publicado: (2019)

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
por: Antwi, Prince, et al.
Publicado: (2018)

Biomarkers for Bronchopulmonary Dysplasia in the Preterm Infant
por: Rivera, Lidys, et al.
Publicado: (2016)

Serum and Urinary N-Terminal Pro-brain Natriuretic Peptides as Biomarkers for Bronchopulmonary Dysplasia of Preterm Neonates
por: Iliodromiti, Zoi, et al.
Publicado: (2020)

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion
por: Liu, Xijing, et al.
Publicado: (2022)

Risk Factors for Tracheobronchomalacia in Preterm Infants With Bronchopulmonary Dysplasia
por: Su, Ya-Ting, et al.
Publicado: (2021)

Respiratory Tract Microecology and Bronchopulmonary Dysplasia in Preterm Infants
por: Sun, Tong, et al.
Publicado: (2021)

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia
por: von Bohlen, Anna E., et al.
Publicado: (2017)

Prediction Models for Bronchopulmonary Dysplasia in Preterm Infants: A Systematic Review
por: Peng, Hai-Bo, et al.
Publicado: (2022)

A prediction model of pulmonary hypertension in preterm infants with bronchopulmonary dysplasia
por: Wang, Chenhong, et al.
Publicado: (2022)

The Correlation Between Bronchopulmonary Dysplasia and Platelet Metabolism in Preterm Infants
por: Yan, Longli, et al.
Publicado: (2021)

Risk prediction of bronchopulmonary dysplasia in preterm infants by the nomogram model
por: Gao, Yang, et al.
Publicado: (2023)

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9
por: Katoh‐Fukui, Yuko, et al.
Publicado: (2015)

The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers
por: Yao, Baojin, et al.
Publicado: (2015)

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
por: Mattos, Eduardo P., et al.
Publicado: (2015)

Neonatal sequential organ failure assessment score within 72 h after delivery reliably predicts bronchopulmonary dysplasia in very preterm infants
por: Xu, Doudou, et al.
Publicado: (2023)

Prediction of Bronchopulmonary Dysplasia in Preterm Infants Using Postnatal Risk Factors
por: Ding, Li, et al.
Publicado: (2020)

Health Care Burden of Bronchopulmonary Dysplasia Among Extremely Preterm Infants
por: Mowitz, Meredith E., et al.
Publicado: (2019)

Predictors of Developmental and Respiratory Outcomes Among Preterm Infants With Bronchopulmonary Dysplasia
por: Morag, Iris, et al.
Publicado: (2021)

The Airway Microbiome and Metabolome in Preterm Infants: Potential Biomarkers of Bronchopulmonary Dysplasia
por: Xu, Qi, et al.
Publicado: (2022)

Case Report: Clostridium neonatale Bacteremia in a Preterm Neonate With Necrotizing Enterocolitis
por: Cassir, Nadim, et al.
Publicado: (2021)

Urinary biomarkers for the early prediction of bronchopulmonary dysplasia in preterm infants: A pilot study
por: Cui, Xuewei, et al.
Publicado: (2022)

A scoping review of echocardiographic and lung ultrasound biomarkers of bronchopulmonary dysplasia in preterm infants
por: Martini, Silvia, et al.
Publicado: (2023)

Ophthalmomyiasis in a preterm neonate resulting in blindness: A case report from Botswana
por: Nakstad, Britt, et al.
Publicado: (2022)

Nasal Intermittent Positive Pressure Ventilation and Bronchopulmonary Dysplasia Among Very Preterm Infants Never Intubated During the First Neonatal Admission: A Multicenter Cohort Study
por: Avila-Alvarez, Alejandro, et al.
Publicado: (2022)

Frequency of Immediate Neonatal Complications (Hypoglycemia and Neonatal Jaundice) in Late Preterm and Term Neonates
por: Salman, Muhammad, et al.
Publicado: (2021)

Treating Hypotension in Preterm Neonates With Vasoactive Medications
por: Joynt, Chloe, et al.
Publicado: (2018)

Procalcitonin in Preterm Neonates: A Different Threshold and Prolonged Interpretation
por: Bianco, Blandine, et al.
Publicado: (2021)

Intermittent Hypoxia in Preterm Neonates and Its Effect on Neonatal Morbidity and Mortality: A Systematic Review
por: Mandala, Vinod Kumar, et al.
Publicado: (2023)

Use of Autologous Cord Blood Mononuclear Cells Infusion for the Prevention of Bronchopulmonary Dysplasia in Extremely Preterm Neonates: A Study Protocol for a Placebo-Controlled Randomized Multicenter Trial [NCT04440670]
por: Ren, Zhuxiao, et al.
Publicado: (2020)

Utility of Clinical and Ultrasonographic Hip Screening in Neonates for Developmental Dysplasia of the Hip
por: Yu, Rui Xuan, et al.
Publicado: (2021)

Correlation of Early Nutritional Supply and Development of Bronchopulmonary Dysplasia in Preterm Infants <1,000 g
por: Thiess, Theresa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aedipdnnlfb893jkov2m541fr1