Wildervanck syndrome: case report from a tertiary care centre
نویسندگان
چکیده
One suspected case of Wildervanck syndrome (OMIM 314600) reported from our tertiary care centre. is distinct other similar conditions due to its opthal and hearing associations-forming a clinical triad. Candidate gene identification in still pending whereas most genetic has got specific mutation. Klippel Feil anomaly one girl admitted centre with severe pneumonia showed features short neck, fusion cervical spines Sprengel deformity. Detailed examination bilateral sensorineural loss, Duane eye movement novel associations not described literature. We clinically did molecular testing. Being clinicians, it responsibility report new findings thus broaden the phenotype. Since highly infrequent disorder, discussed detail here.
منابع مشابه
Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India
Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...
متن کاملDiagnosis of Brugada syndrome during fever: a case report from a tertiary care centre.
A 19 yr old boy came to our hospital with high grade fever since two days. We made clinical impression of malaria. Routine ECG showed rsr pattern and ST elevation in V1,V2. After excluding all other conditions and retrospective counselling, we made diagnosis of Brugada syndrome. Screening baseline ECG of his family members is positive for Brugada ECG pattern. Echocardiogram is normal. Since pat...
متن کاملEctopic Cushing's syndrome: experience from a tertiary care centre.
BACKGROUND & OBJECTIVE Ectopic secretion of adrenocorticotropic hormone (ACTH) is rare, contributing to 10 per cent cases of endogenous Cushing's syndrome. We describe our experience of about two decades of patients with ectopic Cushing's syndrome (ECS) seen at a tertiary care centre from north India. METHODS Records of patients with ECS from 1985 to 2006 were retrospectively reviewed that in...
متن کاملrobinow syndrome: a rare case report from a tertiary care hospital in eastern india
background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...
متن کاملKindler Syndrome: A case Report from Iran
Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2023
ISSN: ['2349-3283', '2349-3291']
DOI: https://doi.org/10.18203/2349-3291.ijcp20232597