Growth hormone deficiency in Costello syndrome
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چکیده
منابع مشابه
Is growth hormone treatment beneficial or harmful in Costello syndrome?
Costello syndrome (CS) was first described by Costello in two unrelated children, in 1971 and 1977. The major manifestations of CS have been summarised as postnatal growth deficiency, developmental delay, relative macrocephaly, coarse face, thick ears, thick lips, depressed nasal bridge with anteverted nares, excess skin, thick palms and soles, short neck, curly hair, nasal papillomata, and soc...
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A 9 year old boy with Poland's syndrome (absence of the left pectoralis major muscle associated with an ipsilateral malformation of the hand) and isolated growth hormone deficiency, owing to anatomical abnormalities of the pituitary gland, is described. MRI brain scan showed severe hypoplasia of both the sella and anterior lobe of the pituitary gland with absence of the pituitary stalk and ecto...
متن کاملPrader-Willi Syndrome and Growth Hormone Deficiency
Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due...
متن کاملRecombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation
BACKGROUND Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incide...
متن کاملCostello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2004
ISSN: 0148-7299,1096-8628
DOI: 10.1002/ajmg.a.30187