Stuve-Wiedemann syndrome with a novel mutation
نویسندگان
چکیده
منابع مشابه
The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome.
Stüve-Wiedemann syndrome is an autosomal-recessive disorder characterised by bowing of the long bones, progressive scoliosis, episodic hyperthermia and respiratory distress, usually resulting in death in infancy. We reviewed five children with the condition who had been followed since birth and who survived into childhood with a mean age at operation of 7.8 years (5 to 14). There was marked fun...
متن کاملA case report of beckwith-wiedemann syndrome
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...
متن کاملIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملIdentification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
متن کاملSporadic Kindler Syndrome with a novel mutation*
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The...
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: BMJ Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2015-212032