A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
نویسندگان
چکیده
منابع مشابه
A Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کاملThanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...
متن کاملCongenital Becker’s nevus: report of a rare case
Introduction: Beckers’s nevus is a cutaneous hamartoma which usually appears as a circumscribed hyperpigmentation with hypertrichosis. It usually presents unilaterally and the usual site is shoulder and scapula. It is rarely congenital and it is usually noticed first during adolescence. Case Report: Herein, we report a congenital bilateral large Becker’s nevus with positive familial history ...
متن کاملCongenital arhinia: A rare case
Congenital arhinia or absence of nose is a rare condition with only 30 cases reported so far. We report a rare case and briefly review the literature.
متن کاملCongenital Arhinia: A Rare Case
PATIENT Male, 4 months FINAL DIAGNOSIS Congenital arhynia Symptoms: Absence of the nose Medication: - Clinical Procedure: - Specialty: Pediatrics and Noenatology • Genetics. OBJECTIVE Congenital defects. BACKGROUND Congenital nasal absence (arhinia) is an extremely rare malformation. Arhinia causes severe airway obstruction and poor feeding in the affected neonate. There is an association...
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: IOSR Journal of Dental and Medical Sciences
سال: 2013
ISSN: 2279-0861,2279-0853
DOI: 10.9790/0853-0416468