Presentation
Istituto di Genetica Università di Cagliari Viale Poetto, 1 09100 Cagliari, ItalySearch for more papers by this author First published: September 1972 Citations: 20 Abstract Seven cases of the syndrome first described by Rubinstein and Taybi in 1963 are presented [onlinelibrary.wiley.com]
We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment Key words: Hypoglycemia [analesdepediatria.org]
Entire Body System
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Physician
These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. [rarediseases.org]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Musculoskeletal
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Brachydactyly
In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of bones within the body of the hands and feet (metacarpals and metatarsals). [rarediseases.org]
Face, Head & Neck
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Broad Nasal Bridge
nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). [rarediseases.info.nih.gov]
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High Forehead
Individuals with Filippi syndrome have distinctive facial features including a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip and widely spaced eyes (hypertelorism). [rarediseases.org]
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Hypertelorism
Individuals with Filippi syndrome have distinctive facial features including a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip and widely spaced eyes (hypertelorism). [rarediseases.org]
Workup
X-Ray
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Delayed Bone Age
Some individuals with the disorder may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate) and a dislocated elbow. [rarediseases.org]
Treatment
Other treatment is symptomatic and supportive. [rarediseases.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment Key words: Hypoglycemia [analesdepediatria.org]
Prognosis
The mutations seem unrelated with the electroclinical features and prognosis, while the prognosis appears to be related with the electroclinical features. The prognosis is particularly poor in presence of typical SMEI features. [moh-it.pure.elsevier.com]
Etiology
The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]
These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. [analesdepediatria.org]