Is there a relationship between inborn errors of metabolism and extensive mongolian spots?

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.

Idiopathic hemochromatosis in a young man presenting with palpitations.

A 32-year-old male presented with palpitations and an elevated serum iron. Further evaluation revealed elevated serum ferritin, and a liver biopsy confirmed the diagnosis of hemochromatosis. Cardiovascular workup was normal except for sinus bradycardia alternating with sinus tachycardia in the 24-hour Holter study. Treatment with weekly phlebotomies was started and the family is being studied for early diagnosis of any other case of hemochromatosis. The manifestations, diagnostic workup, and the importance of early diagnosis of hemochromatosis is stressed.

The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.

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.

Noonan syndrome: a review.

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.

Growth analysis in clinical genetics.

The number of genetic and environmental determinants of human growth is very large and their interplay is responsible for the enormously complex phenomenon of prenatal and postnatal growth and simultaneous differentiation in function. Genetic factors participate substantially in determining size at birth, but become more and increasingly important in the realization of inherent potential after the age of two years. Thus, prenatal growth is determined by a greater number of environmental factors than postnatal growth, including parity, pregnancy spacing, maternal age, size, blood pressure, race, health, smoking, alcohol intake, twinning, intrauterine constraint, etc. Galilei's scale effect sets the upper limit of human size, and our surface area determines our metabolic rate and to some extent our life span. Age and rate of pubertal maturation varies with sex, race, and health of the individual, and may be dramatically influenced by numerous environmental and genetic disturbances. One of the most consistent and dramatic effects of autosomal aneuploidy on development is permanent reduction of growth rate, beginning very early in embryonic development. This effect on growth can be interpreted as an abnormality of developmental homeostasis or canalization. Reduced buffering or canalization of growth has been demonstrated in the DS and constitutes most elegant confirmation of the Waddington-Shapiro hypothesis; it ought to be demonstrable also in most if not all of the gonosomal aneuploidies. Thus, an ultrasonographic analysis of embryonic and fetal growth ought to be normal practice in all, not just high--risk pregnancies, and serve as valuable indicator of fetal developmental abnormality if IUGR is found. Because of difference in prognosis and possible difference in obstetric management, ultrasonographers ought to make a distinction in practice between (proportionate) IUGR and (disproportionate) CSOS. Depending on age of onset and severity, reduced prenatal movement can lead to the fetal akinesia sequence including growth retardation of all or part of the fetus. Neurohypotrophy shows that normal innervation is required for normal growth and function of limbs.

Proximal trisomy 14q: report of a case and review of the literature.

Descreve-se uma crianca do sexo feminino com trissomia parcial do 14. O cariotipo 47,XX, + der(14), t(9;14) (p24;q24)mat e o resultado da disjuncao meiotica 3:1 na mae heterozigota 46,XX, t(9;14) (9qter-9p24: :14q24-14qter;14pter-14 a 24: 9p24-pter), que teve dois abortos espontaneos previos.E feita uma revisao dos casos ja descritos discutindo-se as semelhancas clinicas

Genetic and cytogenetic studies in patients with intersexuality or infertility.

A total of 198 patients has been investigated from the genetic and cytogenetic points of view. Chromosomal aberrations were probably responsible for 8 and genic causes for 11 of the 24 cases of intersexuality. Among 96 infertile males the prevalence of abnormal karyotypes was significantly higher in azoospermic (34%) as compared to oligospermic (9%) individuals. However, if persons with hypogonadism or Klinefelter's signs are not considered, the frequency of abnormal karyotypes decreases and the difference between azoospermic and oligospermic men becomes non-significant (19% and 7%, respectively). Genic factors may be the cause of sterility in about one-fourth of these males. Chromosome causes were identified in 29 and abnormal genes postulated in 9 of the 78 sterile females. Among the more rare karyotypes found, the following were considered in more detail: 45,X/46,X,i (Yp) (observed among the intersex patients); 46,X,r (Y), and 46,XY,t(2;8) (2p12 leads to pter::8 pter) (both found among the infertile males). Y/F ratios were calculated for 47 azoospermic, 40 oligospermic and 30 control individuals; the differences between their means were statistically non-significant.