Clinical Report Possible Third Case of Lin-Gettig Syndrome
نویسندگان
چکیده
We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not present in the two previously described patients with this syndrome. High-resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) for cryptic telomeric rearrangement were normal. The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity. 2002 Wiley-Liss, Inc.
منابع مشابه
Bazex-Dupre-Christol syndrome: A case report
Bazex-Dupre-Christol (BDC) syndrome is clinically characterizedby multiple basal cell carcinomas of the face that mainly occurduring the second and third decade of life, follicular atrophodermapredominantly of the dorsum sides of the hands and feetand generalized hypotrichosis; sometimes with pili torti andtrichorrhexis nodosa. Features commonly associated with BDCare milia, hypohidrosis and ca...
متن کاملMotor Aphasia as a Rare Presentation of Fat Embolism Syndrome; A Case Report
Fat embolism syndrome is a clinical diagnosis, and diagnostic procedures are not specific. In every trauma patient, Fat embolism syndrome has to be considered as a possibility and supportive treatment should begin as soon as possible. The authors reported a rare case of Fat embolism syndrome whose only neurological symptom was motor aphasia. A young man sustained comminuted femoral shaft frac...
متن کاملOne Case-report of Hand-Schuller-christian Syndrome in Children
SUMMARY Histiocytosis X is associated with idiopathic Proliferation of histiocytes and infiltration of eosinophils in bone marrow Spleen, Liver and other Soft tissues. Clinically there are three distinct forms: 1 - Eosinophilic granuloma is the most benign and Localized form of the disease. 2- Letterer- Siwe is the most malignant, generalized and fatal form of the disease. 3- Hand- Schul...
متن کاملBrooke-Spiegler Syndrome: a case report
Brooke-Spiegler syndrome is a rare autosomal recessive disease characterized by adnexal neoplasms, particularly trichoepithelioma, cylindroma, and occasionally spiradenoma, which usually develop in second to third decades of life. We report this syndrome in a 16-year-old woman with tumors on face and scalp.
متن کامل18F-FDG PET/CT findings in a possible MELAS syndrome: A case study
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA, presenting a wide range of clinical symptoms comprising headaches, seizures, aphasia, hearing loss, visual defects, and hemiparesis. Herein we report a case of a previously asymptomatic 40-year-old male who presented with recurrent headache, seiz...
متن کامل