Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

2021 ◽  
Author(s):  
Changqing Xia ◽  
Dibyendu Kumar ◽  
Bei You ◽  
Deanna L. Streck ◽  
Lisa Osborne ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Neonatal Intensive Care ◽  
Gene Deletion ◽  
Septal Defect ◽  
Heart Defects ◽  
Facial Features ◽  
Review Of The Literature ◽  
Antiepileptic Medication ◽  
Eye Problems ◽  
Contiguous Gene

AbstractWolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Double-Outlet Right Ventricle in a Chianina Calf

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 318
Author(s):  
Domenico Caivano ◽  
Maria Chiara Marchesi ◽  
Piero Boni ◽  
Noemi Venanzi ◽  
Giovanni Angeli ◽  
...  
Keyword(s):  
Right Ventricle ◽  
Septal Defect ◽  
Heart Defects ◽  
Double Outlet Right Ventricle ◽  
Cardiac Malformation ◽  
Septal Defects ◽  
Congenital Cardiac Malformation ◽  
The Right ◽  
Similar Complex ◽  
Echocardiographic Findings

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac malformation observed in a 10-day-old male Chianina calf. Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings. To the authors’ knowledge, a similar complex congenital cardiac malformation has not been reported in calves of the Chianina breed to date.

Posterior fossa ganglioglioma—an unusual cause of hearing loss

1987 ◽  
Vol 101 (7) ◽  
pp. 714-717 ◽  
Author(s):  
R. S. Dhillon
Keyword(s):  
Hearing Loss ◽  
Posterior Fossa ◽  
Review Of The Literature ◽  
Rare Tumours

Intracranial or spinal gangliogliomas of the CNS are rare tumours. Although several cases have been reported over the years, controversy still remains as to their origin, treatment and prognosis. A case of an eight-year-old girl with a ganglioglioma in the cerebellum with extension into the cerebello-pontine angle is described. The histological basis of the diagnosis is discussed and a review of the literature is presented.

scholarly journals Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome

2017 ◽  
Vol 17 (1) ◽  
pp. 71-77 ◽  
Author(s):  
Erin E. Salo-Mullen ◽  
Patricio B. Lynn ◽  
Lu Wang ◽  
Michael Walsh ◽  
Anuradha Gopalan ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Gene Deletion ◽  
Contiguous Gene

scholarly journals Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit

2017 ◽  
Vol 37 (10) ◽  
pp. 1117-1123 ◽  
Author(s):  
K Van Naarden Braun ◽  
R Grazel ◽  
R Koppel ◽  
S Lakshminrusimha ◽  
J Lohr ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Neonatal Intensive Care Unit ◽  
Pulse Oximetry ◽  
Congenital Heart Defects ◽  
Neonatal Intensive Care ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

scholarly journals The Use of Frequency Lowering Technology in the Treatment of Severe-to-Profound Hearing Loss: A Review of the Literature and Candidacy Considerations for Clinical Application

2018 ◽  
Vol 39 (04) ◽  
pp. 377-389 ◽  
Author(s):  
Susan Scollie ◽  
Danielle Glista
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Clinical Application ◽  
Current Literature ◽  
High Frequency ◽  
Hearing Aid ◽  
Verification And Validation ◽  
Review Of The Literature ◽  
Profound Hearing Loss

AbstractThis article provides a review of the current literature on the topic of frequency lowering hearing aid technology specific to the treatment of severe and profound levels of hearing impairment in child and adult listeners. Factors to consider when assessing listener candidacy for frequency lowering technology are discussed. These include factors related to audiometric assessment, the listener, the type of hearing aid technology, and the verification and validation procedures that can assist in determining candidacy for frequency lowering technology. An individualized candidacy assessment including the use of real-ear verification measures and carefully chosen validation tools are recommended for listeners requiring greater audibility of high-frequency sounds, when compared with amplification via conventional hearing aid technology.

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