[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain]. / Síndrome de Wiedemann-Beckwith: análisis clínico-epidemiológico de una serie consecutiva de casos en España.

OBJECTIVE: Wiedemann-Beckwith syndrome is a multisystemic pattern of congenital anomalies with overgrowth. The most characteristic clinical features are macroglossia, high birth weight, omphalocele, visceromegaly and hypoglycemia. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 18 cases with Wiedemann-Beckwith syndrome identified in the consecutive series of 25,967 malformed liveborn infants detected among 1,431,368 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1997. RESULTS AND CONCLUSIONS: The minimal estimated frequency of Wiedemann-Beckwith syndrome in Spain is 0.13 per 10,000 liveborn infants. These infants have a high birth weight for their gestational age and are born of shorter pregnancies (prematurity 33.3%). The clinical manifestations of our cases are concordant with the variable expression of the syndrome; the most frequent features were macroglossia (100%), omphalocele or umbilical hernia (77.8%) and high birth weight (64.7%). Other findings were polyhydramnios and placentomegaly. All of the cases were sporadic.

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain]. / Síndrome de Apert: análisis clínico-epidemiológico de una serie consecutiva de casos en España.

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.

[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.

[Jarcho-Levin and Casamassima syndromes: differential diagnosis and frequency in Spain]. / Síndromes de Jarcho-Levin y Casamassima: diagnóstico diferencial y frecuencia en España.

OBJECTIVE: Jarcho-Levin syndrome is characterized by the presence of only costal-vertebral defects. However, this diagnosis has been used in any case presenting with costovertebral defects, whether associated to other congenital defects or not. Recently, it has been demonstrated that costovertebral defects constitute a developmental field defect and, because of this, they can be observed in different clinical and etiological patterns. On the other hand, Casamassima syndrome is characterized by the presence of costovertebral defects, genito-urinary anomalies and anal atresia, which make it easily distinguishable from Jarcho-Levin syndrome. PATIENTS AND METHODS: We present the cases with Jarcho-Levin and Casamassima syndromes identified among 1,405,374 liveborn (LB) infants registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC). RESULTS: Frequencies of these two syndromes in the ECEMC are 0.2 per 100,000 LB for Jarcho-Levin syndrome and 0.3 per 100,000 LB for Casamassima syndrome. We present the clinical manifestations and other characteristics of all the cases registered with these syndromes in the ECEMC. CONCLUSIONS: Jarcho-Levin syndrome is defined by the presence of costoveriebral defects without any other congenital defect. However, given that the alterations of the axial skeleton are a developmental field defect, they can be observed in different clinical-etiological patterns that should not be considered as Jarcho-Levin syndrome. Among these, Cassamassima syndrome can be clearly distinguished, being autosomal recessive as is Jarcho-Levin syndrome.

[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.

[Anophthalmia/micro-ophthalmia in syndromes: epidemiology study of newborns in Spain]. / Anoftalmía/microftalmía en síndromes: estudio epidemiológico en recién nacidos en España.

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.