Search

Mandibuloacral dysplasia type A MADA is characterized by growth retardation, postnatal onset of craniofacial anomalies with mandibular hypoplasia, progressive acral osteolysis, and skin changes including mottled pigmentation, skin atrophy, and lipodystrophy. Owing to its slowly progressive course, the syndrome has been recognized in adults, and pediatric case reports are scarce. We present the clinical case of two children in whom the diagnosis of MADA was made at an unusually early age. A 5yearold boy presented with ocular proptosis, thin nose, and short and bulbous distal phalanges of fingers. A 4yearold girl presented with round face and chubby cheeks, thin nose, bulbous fingertips, and type A lipodystrophy. In both, a skeletal survey showed wormian bones, thin clavicles, short distal phalanges of fingers and toes with acroosteolysis. Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A, p.R527H in exon 9 of the LMNAgene. Thus, the phenotype of MADA can be manifest in preschool age; diagnosis may be suggested by short and bulbous fingertips, facial features, and lipodystrophy, supported by the finding of acral osteolysis, and confirmed by mutation analysis. © 2009 WileyLiss, Inc.

Mowat–Wilson syndrome MWS; OMIM 235730 is a genetic condition caused by heterozygous mutations or deletions of the ZEB2gene, and characterized by typical face, moderatetosevere mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies particularly hypospadias in males, congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. Mowat et al. 1998; J Med Genet 35:617–623, ∼179 patients with ZEB2mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21–q23 microdeletions or different chromosome rearrangements in few patients, and ZEB2mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition. © 2009 WileyLiss, Inc.

Holt–Oram syndrome HOS OMIM 142900 is characterized by upperextremity malformations involving the radial, thenar, or carpal bones and a personal andor family history of congenital heart defects CHDs. It is inherited in an autosomal dominant manner. The TBX5gene located on chromosome 12 12q24.1 is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation Lys88ter. We discuss genotype–phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis. © 2008 WileyLiss, Inc.

AbstractHypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.Copyright © 2005 S. Karger AG, Basel

Objectives: Collection and assessment of data from the Emilia-Romagna Region on the occurrence of congenital heart defects in order to identify an homogeneous group of patients for further aetiologic and genetic studies. Materials and methods: The present study is based on 1549 stillborn and live born babies affected by congenital heart defect out of 330,017 consecutive births (4.7 per 1000). Results: The frequency and type of congenital heart defects have been identified together with the sex ratio, associated extracardiac anomalies, chromosomal anomalies and the risk of precurrence in relatives. The impact of prenatal diagnosis on prevalence was low during the study period. Conclusions: The study has provided epidemiological data for public health surveillance of congenital heart defects in the Emilia-Romagna region. The creation of a system for the nationwide recording of congenital heart defects designed with regard to the sources of ascertainment, the diagnostic criteria, and the system of classification is emphasised.

No Abstract

No abstract.

No abstract.