[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics]. / Estudio epidemiológico de la distrofia miotónica congénita de Steinert: características dismorfológicas.

OBJECTIVE: Steinert's congenital myotonic dystrophy (CMD) is a systemic disease with autosomal mother-to-child transmission and characterized by generalized hypotonia, areflexia, facial diplegia, respiratory and alimentary diseases, arthrogryposis, polyhydramnios, etc. We present the study of the clinical and epidemiological characteristics of Steinert's CMD in our population, with special attention to its dysmorphological features. PATIENTS AND METHODS: In this study we present the analysis of 12 cases of Steinert's CMD identified among 26,956 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1998. RESULTS: The minimum estimation of the prevalence in our population is 0.08 per 10,000 live births. We have epidemiologically observed in newborns with Steinert's CMD the presence of a statistically significant difference in the following variables: lower gestational age and birth weight, more polyhydramnios, more feet presentations and Cesarean sections, and a higher frequency of similar congenital defects in first degree relatives. The congenital defects most frequently associated to our population of CMD are located in the extremities, the head and face. CONCLUSIONS: It is important to recognize the congenital defects associated with neuromuscular disorders in the neonatal period, and particularly, the wide spectrum of Steinert's CMD that results in a fetal hypokinesia deformation sequence.

[Epidemiological aspects of children of women with bicornuate uterus]. / Aspectos epidemiológicos de los hijos de mujeres con útero bicorne.

BACKGROUND: Most published papers on women with a bicornuate uterus analyze their fertility problems, as well as certain pregnancy complications. We have not found any epidemiological study on the infants of mothers with this uterine malformation. Only in some papers a reference is made about the relationship of maternal bicornuate uterus with congenital deformations and disruptions in their infants. PATIENTS AND METHODS: Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), which has a case-control methodology, some characteristics in a series of 26,945 malformed infants, such as birth weight, sex, gestational age, umbilical cord length, placental weight and maternal age, were analyzed by separating infants of mothers with normal uterus and those of mothers with a bicornuate uterus. RESULTS: Results showed that women with a bicornuate uterus have more daughters than sons and an increased risk for intrauterine growth retardation and prematurity with respect to infants of mothers with a normal uterus. On the other hand, the risk of having an infant with congenital defects is higher for women with a bicornuate uterus than for those with a normal uterus. CONCLUSIONS: Pregnancies of women with a bicornuate uterus have to be considered at risk since they have more risk for complications and for having an infant with congenital defects, premature birth and with intrauterine growth retardation.

[Nomogram for calculating the caloric intake for newborn infants]. / Nomograma para el cálculo del aporte calórico en recién nacidos.

We report an original nomogram to calculate the caloric contribution in the newborn using milliliters of milk and its concentration. Formula usually contain 5 kcal/g of milk. It could be utilized for intervals every two, three and four hours.

[Ventriculo-peritoneal shunt, hypovolemic shock and cerebrospinal fluid ascites]. / Derivación ventrículo-peritoneal, "shock" hipovolémico y ascitis por líquido cefalorraquídeo.

A case of communicating hydrocephalus with excessive amount of choroid plexus confirmed by computerized tomography scan in a five-year-old girl is reported. The child exhibited hypovolemic shock and cerebrospinal fluid (CSF) ascites after ventriculo-peritoneal shunting and relief after ventriculoatrial shunting. Some features suggest overproduction of CSF, with the so-called "third-space" fluid losses, due to sequestration of fluids in the body (peritoneum) that might explain shock. They review 22 cases of CSF ascites reported in the literature.

[Fetal alcohol syndrome: 17 cases]. / Embriofetopatía alcohólica. Estudio de 17 casos.

The authors study retrospectively 30 children of 15 chronic alcoholic mothers, among which 17 are typical forms of fetal alcohol syndrome, seven are forms of "partial effects" and six are normal. There were five family cases. The recent problems in relation with fetal alcohol syndrome and mother's alcoholism are discussed.