After 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. The peculiar cardiac involvement deserves special attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual-motor disabilities, and endocrine evaluation) are also described.
We report on two patients with clinical evidence of Noonan syndrome and neurofibromatosis. Four hypotheses to explain the simultaneous Occurrence of both conditions are discussed.
We report on two daughters, born to consanguineous parents, who had severe mental retardation, microcephaly, retinal pigmentary degeneration, and spastic cerebral palsy. We think that this syndrome is the same as that described by Mirhosseini et al [1972] (McK-26805). The presence of consanguinity favors the hypothesis of autosomal recessive inheritance.
This review is divided in several items. A brief introduction on the characterization of the growth processes is made; the ways of assessing fetal development and well-being, the factors acting on fetal growth and birth weight, the causes and post-natal consequences of prematurity and intrauterine growth retardation are discussed in the first part. The following items deal mainly with: the normal pattern of growth from birth to puberty according to sex, race, and nutritional status, with special mention to pubertal changes; methods for predicting adult height from skeletal age; the effect of hormones during pre- and post-natal life; and the genetics of adult stature. The remainder of this review deals with genetic causes of growth abnormalities. Constitutional delay of growth, familial short stature, hypothalamic-pituitary dwarfism, skeletal dysplasias and many genetic syndromes presenting intrauterine growth retardation are listed. Aneuploidy effects on human growth are extensively reviewed, and usual growth patterns in Down and Ullrich-Turner syndrome patients as well as other sex aneuploid individuals and mosaics are fully described. The influences of X and Y chromosomes on growth and maturation are also discussed. Finally, some remarks are made about overgrowth syndromes.
We report on a case of inborn errors of metabolism in association with extensive mongolian spots. We suggest that this association may be due to a disequilibrium of metabolism during embryonic development.
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