[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.

Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case.

We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].

[Asymmetrical otocraniofacial syndrome (hemifacial microsomy) in discordant monozygotic twins. Otologic aspects]. / Síndrome otocraneofacial asimétrico (microsomía hemifacial) en gemelos monocigóticos discordantes. Aspectos otológicos.

The authors present a case of otocraniofacial syndrome with asymmetric involvement (hemifacial microsomia) in monozygotic twins discordant for the syndrome. Only a few cases of discordance in monozygotic twins have been previously describe in world literature. The occurrence of discordance in identical twins indicates the significance of exogenous factors. The patient had bilateral involvement right side being more severely involved than left side. Conductive hearing loss due to middle ear abnormalities was also present. Usefulness of tomographic examination to study structural ear abnormalities is emphasized, and some comments on the otologic involvement in this syndrome are made.