scholarly journals A Father and Son with a Nonsevere form of Crouzon's Syndrome

2000 ◽  
Vol 79 (5) ◽  
pp. 368-371
Author(s):  
Bülent Mamikoglu ◽  
Aysegül Mamikoglu
Keyword(s):  
Hearing Loss ◽  
Middle Ear ◽  
Mixed Type ◽  
Autosomal Dominant ◽  
Cranial Sutures ◽  
Autosomal Dominant Disorder ◽  
Classic Form ◽  
Patients Experience ◽  
Father And Son ◽  
Crouzon's Syndrome

Crouzon's syndrome is a hereditary autosomal-dominant disorder. In its classic form, patients experience a premature closure of the cranial sutures, which leads to brachycephaly, proptosis, a small maxilla, and anomalies of the external and middle ear. In this report, we describe the case of a father and son who both had a nonsevere form of this disorder. The two men did not have brachycephaly or proptosis, but they did have ptosis and a mixed-type hearing loss.

Otological findings in idiopathic hyperphosphatasia

1999 ◽  
Vol 113 (2) ◽  
pp. 158-160 ◽  
Author(s):  
Levent Sennaroǧlu ◽  
Bulent Sozeri ◽  
Arzu Sungur
Keyword(s):  
Hearing Loss ◽  
Middle Ear ◽  
Mixed Type ◽  
Ossicular Chain ◽  
Otic Capsule ◽  
Progressive Hearing Loss ◽  
Middle Ear Mucosa ◽  
Superior Part ◽  
Bony Mass ◽  
Temporal Bones

AbstractA 17-year-old male patient was admitted because of progressive hearing loss since the age of six. His former blood and radiology investigation had revealed idiopathic hyperphosphatasia. On ENT examination bilateral thickened tympanic membranes with severe mixed-type hearing loss was diagnosed. Computerized tomography (CT) demonstrated expansion of the calvarial bones, including the temporal bones, except for the otic capsule. Middle-ear exploration revealed thickened middle-ear mucosa and a stone hard, immobile bony mass instead of the normal ossicular chain at the posterior superior part of the mesotympanum. No ossicular reconstruction could be attempted and the patient was rehabilitated with a hearing aid.

Hereditary Hemorrhagic Telangiectasia: What the Otolaryngologist Should Know

1997 ◽  
Vol 11 (1) ◽  
pp. 55-62 ◽  
Author(s):  
S. V. Byahatti ◽  
E. E. Rebeiz ◽  
S. M. Shapshay
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Risk Groups ◽  
The Body ◽  
Autosomal Dominant Disorder ◽  
Therapeutic Modalities ◽  
Recurrent Epistaxis ◽  
Primary Physicians ◽  
The Many ◽  
Patients Experience

Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a systemic autosomal dominant disorder involving blood vessels. Phenotypically, the disease presents with telangiectases that involve all areas of the body. Ninety percent of patients experience epistaxis and are referred to the otolaryngologist for evaluation. Because otolaryngologists may be the primary physicians caring for these patients, it is critical they be knowledgeable about high risk groups, screening protocols for arteriovenous malformations, antibiotic prophylaxis, and genetic screening. It is important that they be aware of the many therapeutic modalities available for the treatment of epistaxis. In this article, the diagnosis, screening, treatment, and molecular genetics of HHT will be discussed. In addition, our experience with 20 patients treated with the Nd:YAG laser for recurrent epistaxis will be reviewed.

scholarly journals Communication Profile of de Lange Syndrome

2021 ◽  
Vol 28 (3) ◽  
pp. 289-293
Author(s):  
Susmi Pani ◽  
Palash Dutta ◽  
Vidushi Saxena ◽  
Asif Ekbal Ansari
Keyword(s):  
Hearing Loss ◽  
Developmental Disorder ◽  
Autosomal Dominant ◽  
Language Disorder ◽  
Female Child ◽  
Autosomal Dominant Disorder ◽  
Sample Number ◽  
Severe Hearing Loss ◽  
Psychological Examination ◽  
Low Iq

Introduction de Lange Syndrome is an autosomal dominant disorder which was initially described by Vrolik (1849) in a child with severe oligodactayly. Case Report A case of 2y2m/Female child came for speech and hearing evaluation. Audiological examination (BOA, DPOAE, ABR /BAER) and Speech-Language Evaluation, Psychological Examination were done by expertise clinicians. Previously, the child was diagnosed with de Lange Syndrome. Audiological evaluation diagnosed the child to have moderately severe hearing loss. After speech and language evaluation the child was detected with speech language disorder. After psychological evaluation the child was diagnosed with severe developmental delay and having low IQ range. Discussion de Lange syndrome is an autosomal dominant developmental disorder characterized by the sample number of characteristics which requires more rehabilitation options have to be planned. Unfortunately, there is dearth of literature that addresses the characteristics, assessment and intervention of individuals with de Lange syndrome.

scholarly journals Crouzon Syndrome: Clinico-Radiological Illustration of a Case

2012 ◽  
Vol 2 ◽  
pp. 70 ◽  
Author(s):  
Raviprakash Sasankoti Mohan ◽  
Naveen Shanker Vemanna ◽  
Sankalp Verma ◽  
Neha Agarwal
Keyword(s):  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Cranial Sutures ◽  
Rare Entity ◽  
Crouzon Syndrome ◽  
Autosomal Dominant Disorder ◽  
Complete Penetrance ◽  
Craniofacial Dysostosis ◽  
Midfacial Hypoplasia ◽  
Orbital Defects

Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities.

scholarly journals Treacher Collins Syndrome : A Case Report

2014 ◽  
Vol 13 (2) ◽  
pp. 70-74
Author(s):  
Tarannum Morshed ◽  
Fonindro Nath Paul ◽  
R N Sarker ◽  
Shahara Haque ◽  
Sadia Sultana
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Female Child ◽  
Craniofacial Development ◽  
Treacher Collins Syndrome ◽  
Autosomal Dominant Disorder ◽  
Anterior Teeth ◽  
Lower Jaw ◽  
Essential Components ◽  
Physical Features

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after Edward Treacher Collins (1862-1932), the English surgeon and ophthalmologist, who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), Conducting hearing loss, under developed zygoma, drooping part of lateral lower eyelids, and malformed or absent ears. This article describes clinical and radiological features of TCS in a 07 yr old female child who had reported to the department of Dentistry and Radiology with the complaint of forwardly placed upper anterior teeth and hearing loss. Also pathogenesis, prenatal diagnosis, differential diagnosis, management and preventive aspects are discussed.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i2.21074

Levy-Hollister Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (1) ◽  
pp. 96-99
Author(s):  
Joseph M. Kreutz ◽  
H. Eugene Hoyme
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Early Recognition ◽  
Nasolacrimal Duct ◽  
Autosomal Dominant Disorder ◽  
Renal Anomalies ◽  
Limb Malformations ◽  
Conductive Hearing ◽  
Radial Aplasia

The Levy-Hollister syndrome is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, hypodontia and enamel dysplasia, and upper limb malformations. Renal anomalies have been noted variably. Two families with this disorder have been described previously. Recently, a third family with the Levy-Hollister syndrome was evaluated. Unusual features present in this family included bilateral nasolacrimal duct fistulas, radial aplasia, and unusual dermal ridge patterns. Early recognition of this disorder should prompt investigation for renal anomalies and/or hearing loss. It should also lead to consideration of surgical attempts to correct the lacrimal abnormalities or conductive hearing loss, thereby reducing the long-term morbidity in affected patients.

scholarly journals Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Nasrollah Maleki ◽  
Bahman Bashardoust ◽  
Manouchehr Iranparvar Alamdari ◽  
Zahra Tavosi
Keyword(s):  
Renal Failure ◽  
Hearing Loss ◽  
Autosomal Dominant ◽  
Laboratory Data ◽  
Sensorineural Deafness ◽  
Autosomal Dominant Disorder ◽  
Laboratory Findings ◽  
Bilateral Deafness ◽  
Hdr Syndrome ◽  
Chromosome 10P15

Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. Here, we report a case of 58-year-old man from Ardabil who presented with seizure due to hypocalcemia. Further history revealed bilateral deafness. Audiogram confirmed sensorineural hearing loss of both sides. His laboratory data were consistent with hypoparathyroidism and renal failure. He was diagnosed to have Barakat syndrome based on his clinical and laboratory data. In conclusion, we need to be aware of rare inherited conditions in a patient with abnormal physical and laboratory findings even though their initial presentation was seizure and hypocalcemia.

Branchio-OTO-Renal Dysplasia in Three Families

1986 ◽  
Vol 95 (4) ◽  
pp. 421-426 ◽  
Author(s):  
Steen Gimsing ◽  
Jørgen Dyrmose
Keyword(s):  
Hearing Loss ◽  
Mixed Type ◽  
Autosomal Dominant ◽  
Early Recognition ◽  
Renal Dysplasia ◽  
Dominant Mode ◽  
Clinical Aspects ◽  
Full Expression ◽  
Renal Malformations

Branchio-oto-renal dysplasia, often called the BOR syndrome, in its full expression consists of 1) hearing loss of conductive, sensorineural, or mixed type; 2) preauricular pits; 3) auricular deformities; 4) lateral cervical sinuses, cysts, or fistulas; and 5) renal malformations. The condition is inherited in an autosomal dominant mode. The findings in three affected families are described, and pertinent genetic and clinical aspects are discussed. The potential seriousness of the renal and aural malformations stresses the importance of early recognition of this syndrome.

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