A unique case of Gorlin–Goltz syndrome with associated Sotos syndrome
نویسندگان
چکیده
منابع مشابه
Sotos Syndrome
Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. Until recently, doctors would diagnose Sotos syndrome on the basis of several common features that include characteristic facial appearance, a degree of learning disability, increased head circumference and large stature. A sample of blood was often taken for genetic testing that could...
متن کاملSotos syndrome
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessiv...
متن کاملSotos syndrome.
In 1964 Sotos et all described five children with (1) large body size and early accelerated growth, (2) acromegaloid features, (3) advanced bone age, and (4) developmental delay and a non-progressive neurological disorder. Since this report over 200 further cases have been described, many with additional observations. Inclusion of new features into the clinical spectrum of Sotos syndrome has ma...
متن کاملNeuroblastoma in a patient with Sotos' syndrome.
Sotos' syndrome, or cerebral gigantism, is a disorder of growth regulation. Tumours have occasionally been reported in children with Sotos' syndrome, but it is uncertain whether this is a coincidence, or whether it is aetiologically related to the underlying disorder of growth. We report a 15 month old child with a paraspinal neuroblastoma and Sotos' syndrome and suggest that children with this...
متن کاملTurner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
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: Annals of Maxillofacial Surgery
سال: 2020
ISSN: 2231-0746
DOI: 10.4103/ams.ams_91_19