Abnormal facies, myopia, and short stature.
نویسندگان
چکیده
منابع مشابه
سندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
متن کاملReport of a four-year-old boy with Progeria without total Alopecia
Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance is unclear, although autosomal dominant mutations have been proposed. The disease presentation is usually in infancy and early childhood with a characteristic phenotype of short stature, abnormal skin and nail, beaked nose, loss of subcutaneous f...
متن کاملسندرم شوارتز جمپل (میوتونی کندرودیستروفی) و معرفی دو مورد آن از مرکز طبی کودکان
S-J syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. Case report: first case: n.1. A boy aged 7 years. His main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. Myotonic ...
متن کاملDo you know this syndrome?*
Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndro...
متن کاملSyndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.
An apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation was described by Gripp et al. 1996. The authors reported on two unrelated patients with congenital cataracts, sensorineural deafness, distinctive facial appearance, mental retardation, postnatal short stature, and skeletal changes. We report on ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Archives of disease in childhood
دوره 47 255 شماره
صفحات -
تاریخ انتشار 1972