Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
نویسندگان
چکیده
منابع مشابه
Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple ind...
متن کاملDifferent Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of two daughters with SHOX haploinsufficiency (46, X, del(X) (p.22.3)) and their mother with 45,X [9]/ 46, X, del(X) (p22.3) [11] karyotype. Physical and auxologi...
متن کاملSyndromes with short stature
At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...
متن کاملShort stature with pigmentation.
Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.
متن کاملShort Stature in Children
Accurate serial measurements of height and weight and an accurate record of growth are essential cornponents of the clinical evaluation of all children. Maintenance of a growth chart allows comparison of an individual child with a large population in terms of both percentile ranking and the determination of ‘ ‘ height age’ ‘ : the chronologic age at which the patient’s height falls on the 50th ...
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ژورنال
عنوان ژورنال: Case Reports in Endocrinology
سال: 2017
ISSN: 2090-6501,2090-651X
DOI: 10.1155/2017/7287351