نتایج جستجو برای: noonan syndrome
تعداد نتایج: 622056 فیلتر نتایج به سال:
Woolly hair is an uncommon congenital anomaly of the scalp presenting with strongly coiled involving a localized area or covering entire side and occurring in non-black people. Among syndromes woolly hair, most known are Naxos syndrome, Carvajal-Huerta hair/hypotrichosis, ectodermal dysplasia-skin fragility tricho-hepato-enteric syndrome. Case characteristics: herein, we report case autosomal r...
1. Children with proven growth hormone deficiency (GHD) 2. Children with height less than 3rd percentile for chronologic age with chronic renal insufficiency 3. Patients with AIDS wasting 4. Adults with proven GHD 5. Patients with Turner’s syndrome 6. Children with growth failure due to Prader-Willi syndrome 7. Patients with short stature due to Noonan syndrome 8. Promotion of wound healing in ...
Noonan syndrome is a rare genetic disease with multisystemic manifestations, typically diagnosed in infancy and childhood. This case report presents 53-year-old woman no significant medical history who presented shortness of breath was subsequently syndrome. The patient exhibited characteristic facial dysmorphology, including narrow face, low set ears, pectus excavatum. Physical examination rev...
Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to the first year of life of 57 subjects with molecularly confirmed diagnosis of RASopathy, to defin...
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depres...
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