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L Paisán Grisolía

Publications and source records attributed to L Paisán Grisolía.

6 recordsLinked to original sources
PubMed1999

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].

OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998. RESULTS AND CONCLUSIONS: The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.

Acrocephalosyndactylia↗
PubMed1999

[Epidemiological study of Steinert's congenital myotonic dystrophy: dysmorphological characteristics].

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.

Case-Control Studies↗
PubMed1998

[Epidemiological aspects of children of women with bicornuate uterus].

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.

Case-Control Studies↗
PubMed1998

[Congenital chylothorax].

OBJECTIVE: The aim of this study was to study the prenatal diagnosis, clinical manifestations and karyotype results in congenital chylothorax. PATIENTS AND METHODS: A retrospective survey of a 20 year period was carried out. The prenatal diagnosis, maneuvers following delivery, malformations and clinical outcome were studied. RESULTS: We found 10 cases of congenital chylothorax. Four were diagnosed by prenatal ultrasound with pleural effusion and no other signs of hydrops and six were diagnosed postnatally. Of the later, five had respiratory distress and one was diagnosed by radiological procedures. In all 10 cases, postnatal thoracocentesis was performed for diagnosis and therapy, five infants required mechanical ventilation and four parenteral nutrition. One patient died 72 hours after birth and three within 24 hours of birth. The clinical outcome of the rest was successful and were placed on a medium-chain triglyceride formula that was given orally. Of the eight karyotypes studied, six trisomy 21 were found. CONCLUSIONS: The prenatal diagnosis of pleural effusion permits prompt recognition of congenital chylothorax and allow for appropriate treatment upon birth. Medical therapy including pleural drainage and total parenteral nutrition and medium-chain triglyceride formula for oral feedings is successful in the majority of cases. Down's syndrome should be considered in fetuses or newborns with pleural effusion.

Chylothorax↗
PubMed1996

[Anophthalmia/micro-ophthalmia in syndromes: epidemiology study of newborns in Spain].

OBJECTIVE: The objective of this study was to perform an epidemiological analysis of the frequency of anophthalmia/microphthalmia (A/M) in syndromes identified in newborn infants in Spain. PATIENTS AND METHODS: Data of the Spanish Collaborative Study of Congenital Malformations during the period of 1976-1994, corresponding to more than 1,200,000 births, was analyzed. Among these, 86 newborn infants with A/M presented some of the recognized syndromes. RESULTS: There is a wide etiological heterogeneity among the syndromes with this ocular defect, with chromosomal syndromes being the most frequent (67.9% of total syndromes with A/M), followed by monogenic syndromes (19.1%), environmental (9.5%) and those of unknown etiology (3.6%). CONCLUSIONS: Some guidelines when a baby is born with A/M are derived from this study. First, given the tendency of the defect to present together with other anomalies, it is advisable to perform a detailed study to rule out or to confirm the existence of other defects. Adequate samples should be taken (even in stillborn infants) for cytogenetic study. Examine carefully the prenatal history, looking for chronic diseases, infectious processes or exposure to teratogens. Depending on the baby's survival, follow-up of the psychomotor development should be made. All of these aspects are always important in malformed babies, but especially in infants with A/M given the tendency of the defect to present in syndromes as the etiologic diagnosis determines the counselling regarding the risk of recurrence, detection of carriers in some cases and possible prenatal diagnosis.

Anophthalmos↗