Ectrodactyly

Abstract: The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3½-year-old girl. It is proposed that this combination of defects represents a specific syndrome of congenital defects, named the EEC syndrome according to its main manifestations.

Abstract: Background: EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy (OMIM 225280). Methods: We here demonstrate through molecular analysis that EEM is caused by distinct homozygous CDH3 mutations in two previously published families. Results: In family 1, a missense mutation (c.965A→T) causes a change of amino acid 322 from asparagine to isoleucine; this amino acid is located in a highly conserved motif likely to affect Ca2+ binding affecting specificity of the cell-cell binding function. In family 2, a homozygous frameshift deletion (c.829delG) introduces a truncated fusion protein with a premature stop codon at amino acid residue 295, expected to cause a non-functional protein lacking both its intracellular and membrane spanning domains and its extracellular cadherin repeats 3–5. Our mouse in situ expression data demonstrate that Cdh3 is expressed in the apical ectodermal ridge from E10.5 to E12.5, and later in the interdigital mesenchyme, a pattern compatible with the EEM phenotype. Furthermore, we discuss possible explanations for the phenotypic differences between EEM and congenital hypotrichosis with juvenile macular dystrophy (HJMD), which is also caused by CDH3 mutations. Conclusions: In summary, we have ascertained a third gene associated with ectrodactyly and have demonstrated a hitherto unrecognised role of CDH3 in shaping the human hand.

Abstract: The Roberts syndrome consists of tetraphocomelia, cleft lip/palate, and prominence of the phallus. This paper summarizes the major phenotypic abnormalities of 17 previously reported cases and reports five new cases. The features to be considered in the diagnosis of the Roberts syndrome arc: (1) tetraphocornelia with ectrodactyly and syndactyly, (2) cleft lip/palate with protrusion of the intermaxillary portion of the upper jaw, (3) ocular hypertelorism, (4) prominence of the phallus, (5) cryptorchidism in the male, and (6) intra- and extra-uterine growth retardation. Analysis of pedigrees suggests autosomal recessive inheritance. The morphologic appearance of the metaphasc chromosomes in one case was unusual and unexplained.

Abstract: Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or associations. With the possible exception of the aberrant tissue band syndrome and the Meckel syndrome, little attention has been paid to syndromes with encephaloceles as a group. This paper discusses syndromes of known genesis, including the aberrant tissue band syndrome, Chemke syndrome, cryptophthalmos syndrome, dyssegmental dwarfism, frontonasal dysplasia, Knobloch syndrome, Meckel syndrome, pseudo-Meckel syndrome, von Voss syndrome, and warfarin syndrome. Associations include a wide range of anomalies that may occur with encephalocele. Some abnormalities are secondary to encephalocele formation; others represent primary noncontiguous embryonic malformations. Associated anomalies include absent corpus callosum, orofacial clefting, craniostenosis, Dandy-Walker defect, Arnold-Chiari defect, ectrodactyly, hemifacial microsomia, hypothalamic-pituitary dysfunction, Klippel-Feil anomaly, iniencephaly, and myelomeningocele. Finally, several other conditions with encephalocele are discussed. Some may represent true low-frequency associations; others are spurious.