1/7. Unusual dysmorphic features in five patients with Noonan's syndrome: a brief review.Noonan's syndrome is a relatively common, multiple congenital anomaly syndrome, genetically inherited as an autosomal dominant disorder with variable penetrance. It is defined by a characteristic phenotype, congenital heart disease, ocular defects and mild mental retardation. Molecular studies have confirmed that it is a heterogeneous disorder and there may be evidence for an autosomal recessive mode of inheritance.1 The gene responsible for Noonan' syndrome has been mapped to the long arm of chromosome 12.2,3 The human deltex gene (DLT x 1), mapping to chromosomal region 12q24 in the vicinity of the Noonan's syndrome critical region is being evaluated as a candidate gene for this disorder.4 Various types of musculoskeletal abnormalities have been reported, including short stature, craniofacial dysmorphism, short or webbed neck and fetal pads in fingers and toes.5 We report five cases with the unusual physical features of overriding toes and simian creases. Such abnormalities can be considered among the minor manifestations of the syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. noonan syndrome presenting growth hormone neurosecretory dysfunction.noonan syndrome has been diagnosed by the characteristic physical stigmata for more than two decades. Recent studies of growth hormone secretory pattern provide a new category of growth hormone neurosecretory dysfunction to characterize short stature. We describe herein a case of growth hormone neurosecretory dysfunction in a 16-year-old boy with noonan syndrome. Growth hormone neurosecretory dysfunction was diagnosed primarily based on the low amplitude and small numbers of the spontaneous bursts of growth hormone secretion during 12-hour nocturnal growth hormone sampling. Treatment with synthetic human growth hormone has markedly accelerated the growth velocity for one year and a half. This case notes the wide spectrum of short stature in noonan syndrome and the effectiveness of treatment with human growth hormone.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/7. Noonan's syndrome with extensive verrucae.We report the case of a patient with multiple findings characteristic of Noonan's syndrome, including a severe lymphedema present since early infancy, hypertelorism, low-set and prominent ears, broad facies, low posterior hairline, high arched palate, broad short neck, slightly short stature, and moderate dental malocclusion. In addition, extensive verrucae planae, verrucae vulgares, and condylomata acuminata occurred and were refractory to conventional therapy. To our knowledge, this is the first report of an association of Noonan's syndrome with extensive verrucae. We speculate that it is related to immunodeficiency as a consequence of loss of immunoglobulins and lymphocytes from intestinal lymphangiectasia. Cutaneous findings and other physical anomalies reported in patients with Noonan's syndrome are reviewed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. 45X/46X,r(X) with syndactyly and severe mental retardation.Two white females, age 2 1/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich-turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one-third of the X ring chromosomes; there was no evidence for X-autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. in situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/7. A child with noonan syndrome.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.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from noonan syndrome, which shares many of the physical features, but not these neurological features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. King syndrome: further clinical variability and review of the literature.The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence of an autosomal dominant myopathy with variable expressivity. We summarize the cases of 14 previously reported patients and describe a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. It has been proposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies. This hypothesis, and the phenotypic overlap between the King and Noonan syndromes are discussed in light of the findings in this new patient.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |