scholarly journals Coronal clival cleft in CHARGE syndrome

2017 ◽  
Vol 30 (6) ◽  
pp. 574-577 ◽  
Author(s):  
Eman Mahdi ◽  
Matthew T Whitehead
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Genetic Disorder ◽  
Ductus Arteriosus ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Craniocervical Junction ◽  
Undescended Testes ◽  
Ear Anomalies ◽  
Patent Ductus

CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome. The presence of a coronal clival cleft should alert the radiologist to examine the ears, eyes, palate, choana, and olfactory centers for other signs of CHARGE syndrome.

Cleft Lip and Palate in CHARGE Syndrome

2017 ◽  
Vol 55 (3) ◽  
pp. 342-347 ◽  
Author(s):  
Kathryn V. Isaac ◽  
Ingrid M. Ganske ◽  
Stephen A. Rottgers ◽  
So Young Lim ◽  
John B. Mulliken
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Choanal Atresia ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Feeding Difficulties ◽  
Dentofacial Orthopedics

Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. Design: This is a retrospective review from 1998 to 2016. Patients: Patients with CHARGE syndrome were diagnosed clinically and genetically. Main Outcomes Measures: Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. Results: CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). Conclusions: CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

scholarly journals Charge Syndrome Hallmarked with Wolff-Parkinson-White Syndrome and Patent Ductus Arteriosus; 20 Years Post-Repairing; An Extreme Combination

2021 ◽  
pp. 26-30
Author(s):  
Yasser Mohammed Hassanain Elsayed
Keyword(s):  
Patent Ductus Arteriosus ◽  
Heart Diseases ◽  
Ductus Arteriosus ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Frequent Pattern ◽  
White Syndrome ◽  
Clinical Criteria ◽  
Wolff Parkinson White Syndrome ◽  
Patent Ductus

Rationale: CHARGE syndrome or Hall-Hittner syndrome is a pleiotropic disorder, in which the name is derived from the abbreviation epitomizing its six clinical criteria: ocular coloboma, cardiac defects, choanal atresia, growth or developmental retardation, genital hypoplasia, and ear anomalies or deafness. Wolff-Parkinson-White syndrome is the most frequent pattern of ventricular pre-excitation. Patent ductus arteriosus is one of the most frequent congenital heart diseases due to failure of closure of the ductus arteriosus within 72 hours of birth. CHARGE syndrome, Wolff-Parkinson-White syndrome, and patent ductus arteriosus are so difficult to be present in a single entity. Patient concerns: A young female girl patient presented to the physician’s outpatient clinic with acute confusion status with a past repaired patent ductus arteriosus. Diagnosis: CHARGE syndrome hallmarked with Wolff-Parkinson-White syndrome and patent ductus arteriosus; 20 years post-repairing. Interventions: Plain chest x-ray, electrocardiography, oxygenation, and echocardiography. Outcomes: A dramatic clinical improvement post-oxygenation had happened. Lessons: CHARGE syndrome with Wolff-Parkinson-White syndrome and repaired patent ductus arteriosus is an extreme combination. The existence of infantile electrocardiographic Tee-Pee sign of hypocalcemia and adult low ionized calcium with CHARGE syndrome is highly suggestive of associated DiGeorge phenotype syndrome. An absence of tachycardia post- repairing of patent ductus arteriosus from 11 mo until the 20th-year-old is a good prognostic sign. The presence of an infantile T-wave alternance will strengthen both the risk of serious arrhythmia and the efficacy of patent ductus arteriosus repairing.

Paediatric and neonatal anaesthesia

2021 ◽  
pp. 899-966
Author(s):  
Simon Berg ◽  
Stewart Campbell
Keyword(s):  
Cleft Lip ◽  
Life Support ◽  
Cleft Lip And Palate ◽  
Ductus Arteriosus ◽  
Fluid Management ◽  
Anaesthetic Techniques ◽  
Medical Problems ◽  
Nerve Blocks ◽  
Congenital Talipes Equinovarus ◽  
Neonatal Physiology

This chapter discusses the anaesthetic management of the neonate, infant and child. It begins with a description of neonatal physiology, then discusses fluid management, anaesthetic equipment and the conduct of anaesthesia in children, including postoperative analgesia. Regional anaesthetic techniques in children are discussed, including caudal, epidural, spinal and regional nerve blocks. Surgical procedures covered include repair of diaphragmatic hernia; gastroschisis/exomphalos; tracheo-oesophageal fistula (TOF); patent ductus arteriosus (PDA); pyloric stenosis; intussusception; herniotomy; circumcision; hypospadias repair; orchidopexy; cleft lip and palate; congenital talipes equinovarus (CTEV); femoral osteotomy, and inhaled foreign body. It includes a discussion of paediatric sedation, paediatric medical problems, paediatric advanced life support, resuscitation of the neonate, the collapsed septic child, stabilisation of the critically ill child, and paediatric drug doses and equipment.

Pentalogy of Cantrell: A Case Report with Pathologic Findings

2004 ◽  
Vol 7 (6) ◽  
pp. 649-652 ◽  
Author(s):  
María S. Correa-Rivas ◽  
Isabel Matos-Llovet ◽  
Lourdes García-Fragoso
Keyword(s):  
Cleft Lip ◽  
Septal Defect ◽  
Cleft Lip And Palate ◽  
Pulmonary Hypoplasia ◽  
Ductus Arteriosus ◽  
Pentalogy Of Cantrell ◽  
Wall Defect ◽  
Pathologic Findings ◽  
Bilateral Cleft Lip ◽  
Absent Pericardium

We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings.

Paediatric and neonatal anaesthesia

2016 ◽  
Author(s):  
Simon Berg ◽  
Stewart Campbell
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ductus Arteriosus ◽  
Fluid Management ◽  
Anaesthetic Techniques ◽  
Anaesthetic Management ◽  
Medical Problems ◽  
Nerve Blocks ◽  
Congenital Talipes Equinovarus ◽  
Talipes Equinovarus

This chapter discusses the anaesthetic management of the neonate, infant, and child. It begins with a description of neonatal physiology, then discusses fluid management, anaesthetic equipment, and the conduct of anaesthesia in children, including post-operative analgesia. Regional anaesthetic techniques in children are discussed, including caudal, epidural, spinal, and regional nerve blocks. Surgical procedures covered include repair of diaphragmatic hernia, gastroschisis/exomphalos, tracheo-oesophageal fistula, patent ductus arteriosus, pyloric stenosis, intussusception, herniotomy, penile circumcision, orchidopexy, hypospadias, cleft lip and palate, congenital talipes equinovarus, femoral osteotomy, and inhaled foreign body. It concludes with a discussion of paediatric medical problems, stabilization of the critically ill child, and paediatric sedation.

scholarly journals Obstructive Sleep Apnea in a Patient with CHARGE Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Carrie-Lee Trider ◽  
Kim Blake
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Cranial Nerve ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Physical Symptoms ◽  
Obstructive Sleep

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

scholarly journals A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome

2017 ◽  
Vol 44 (2) ◽  
pp. 138-140
Author(s):  
Jonathan B. Wagner ◽  
Joshua Q. Knowlton ◽  
Peter Pastuszko ◽  
Sanket S. Shah
Keyword(s):  
Aortic Arch ◽  
Rare Case ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Vascular Ring ◽  
Choanal Atresia ◽  
Coarctation Of The Aorta ◽  
Charge Syndrome ◽  
Rare Type ◽  
Aortic Arch Anomaly

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring—consisting of a right aortic arch with retroesophageal brachiocephalic artery—combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case of these combined disorders occurring in CHARGE syndrome. This report describes a truly rare case and reveals the limitations of echocardiography in detecting complex aortic arch anomalies while illustrating the benefits of advanced imaging prior to surgical intervention.

scholarly journals Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”

2021 ◽  
Vol 37 (3) ◽  
Author(s):  
Muhammad Sohail Arshad ◽  
Muhammad Aslam ◽  
Shahnab Ahmad ◽  
Muhammad Kashif
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Vascular Malformations ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Tertiary Care ◽  
Primary Diagnosis ◽  
Congenital Defects

Objectives: To assess the frequency and pattern of associated congenital heart disease (CHD) among patients with “non-cardiac congenital defects”. Methods: An observational study was done at Paediatric Cardiology Department, The Children’s Hospital and The Institute of Child Health, Multan, Pakistan, from December 2018 to November 2019. Children from birth to 15 years having non-cardiac congenital defects, referred for cardiac evaluation from surgical unit during the study period were enrolled. Echocardiography was done to confirm diagnosis of CHD by consultant pediatric cardiologist. Results: Out of a total of 323 cases, 176 (54.5%) were male. Out of 323 patients, 160 (49.5%) belonged to age one month to one year. Vascular malformations were the most frequent primary diagnosis among our cases, seen in 69 (21.4%) children followed by cleft lip and palate 55 (17.2%), cleft palate only 52 (16.1%), Cleft lip only 40 (12.4%) and ARM high variety 33 (10.2%). CHD was found among 42 (13.0%) children while patent ductus arteriosus (PDA) and VSD were the commonest finding seen in 14 (33.3%) and 6 (14.3%) children respectively. Conclusion: Frequency of associated CHD among patients with non-cardiac congenital defects was high (13.0%). Children with cleft lip and/or palate should be given more attention because of the high incidence of CHD in this group. Echocardiography must be advised for the timely identification of any possible type of CHD. doi: https://doi.org/10.12669/pjms.37.3.3604 How to cite this:Arshad MS, Aslam M, Ahmad S, Kashif M. Spectrum of associated congenital heart defects in patients with “Non-Cardiac Congenital defects at a tertiary care children hospital in Pakistan”. Pak J Med Sci. 2021;37(3):---------. doi: https://doi.org/10.12669/pjms.37.3.3604 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Associated specialties

2020 ◽  
pp. 467-500
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Vascular Malformations ◽  
Slipped Capital Femoral Epiphysis ◽  
Choanal Atresia ◽  
Sleep Apnoea ◽  
Developmental Dysplasia ◽  
Paediatric Surgery ◽  
Obstructive Sleep ◽  
Dysplasia Of The Hip

This chapter covers other specialties that can overlap with paediatric surgery. It covers, therefore, gynaecology, cleft lip and palate surgery, otorhinolaryngology, orthopaedics, cardiology, neurosurgery, and vascular malformations. Among the specific subjects within are labial adhesions and ovarian cysts; choanal atresia, dermoid cysts, obstructive sleep apnoea, tonsillitis, laryngomalacia, airway foreign bodies and tracheostomy; the ‘limping child’, developmental dysplasia of the hip and slipped capital femoral epiphysis; cardiac failure and arrhythmias in children, and endocarditis; ventricular shunts, hydrocephalus, traumatic brain injury, brain tumours and abscesses; and finally haemangiomas and vascular tumours. The sections are written by specialists in the field with the non-specialist in mind.

Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele

2012 ◽  
Vol 10 (1) ◽  
pp. 25-29 ◽  
Author(s):  
Timothy W. Vogel ◽  
Sunil Manjila ◽  
Alan R. Cohen
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Ductus Arteriosus ◽  
Neurodevelopmental Disorder ◽  
Coarctation Of The Aorta ◽  
Chromosome Band ◽  
Genetic Syndromes ◽  
Neurological Outcomes

Giant occipitoparietal encephaloceles are rare forms of neurodevelopmental defects whose etiologies remain uncertain. Their occurrence can lead to variable neurological outcomes depending on the extent of cerebral cortex involved and the ability to repair the defect. In addition, encephaloceles may be associated with various genetic syndromes and familial inheritance. Here, the authors describe a unique constellation of malformations associated with the case of a giant occipitoparietal meningoencephalocele with herniation of cortical tissue and continuity with the ventricular system. The patient had a cleft lip and palate, hemivertebrae of the thoracic spine, a patent ductus arteriosus, a ventricular septal defect, and coarctation of the aorta. To identify the genetic underpinnings of these malformations, fluorescence in situ hybridization and microarray analysis were performed and revealed an 80.65-kb gain within chromosome band 2p11.2. Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation. Surgical repair and follow-up for the neurological malformations are also discussed.

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