Results 121 to 130 of about 9,297 (176)
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature. [PDF]
J Med GenetTrimeche O +9 more
europepmc +1 more source
Case Report: Possible improvement of near-adult height with PEG-rhGH and letrozole in a late-puberty boy with atypical Noonan syndrome and bone age/height age discrepancy: a novel therapy. [PDF]
Front PediatrZhang Z +7 more
europepmc +1 more source
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American Journal of Medical Genetics Part A, 1985
AbstractAfter an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully.
John Opitz
exaly +3 more sources
AbstractAfter an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully.
John Opitz
exaly +3 more sources
Noonan syndrome: The changing phenotype
American Journal of Medical Genetics Part A, 1985AbstractAmong the multiple congenital anomalies (MCA) syndromes, the Noonan syndrome (NS) is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. Autosomal dominant inheritance of Noonan syndrome with variable expressivity has been documented in many families.
J. E. Allanson +6 more
exaly +3 more sources
The neurofibromatosis-Noonan syndrome
American Journal of Medical Genetics Part A, 1985AbstractWe report on two patients with clinical evidence of Noonan syndrome and neurofibromatosis. Four hypotheses to explain the simultaneous occurrence of both conditions are discussed.
John M. Opitz +2 more
exaly +4 more sources
Seminars in Dermatology, 1995
The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Some 25% to 40% of patients have dermatologic abnormalities.
M S, Daoud, P R, Dahl, W P, Su
openaire +2 more sources
The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Some 25% to 40% of patients have dermatologic abnormalities.
M S, Daoud, P R, Dahl, W P, Su
openaire +2 more sources
Keratopathy in Noonan Syndrome
Cornea, 2022Purpose: Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who developed keratopathy with significant visual sequelae. Methods: case series.
Yelin, Yang, Jyh Haur, Woo, Asim, Ali
openaire +2 more sources
Hormone Research in Paediatrics, 2009
Growth failure in Noonan syndrome is mainly postnatal of character and is dominated by slow maturation and late puberty. The postnatal early decline seems to be an intrinsic part of the syndrome. Reported adult heights are about –2 SD and are indicative of a secular trend.
Otten, B.J., Noordam, C.
openaire +3 more sources
Growth failure in Noonan syndrome is mainly postnatal of character and is dominated by slow maturation and late puberty. The postnatal early decline seems to be an intrinsic part of the syndrome. Reported adult heights are about –2 SD and are indicative of a secular trend.
Otten, B.J., Noordam, C.
openaire +3 more sources
Journal of Speech and Hearing Disorders, 1979
The speech, language, and hearing characteristics of a child with Noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.
P, Hopkins-Acos, K, Bunker
openaire +2 more sources
The speech, language, and hearing characteristics of a child with Noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.
P, Hopkins-Acos, K, Bunker
openaire +2 more sources