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.

No Abstract

No abstract.

No abstract.