ABSTRACT
410 patients with malformations of the external ear or nasal cavity were examined. Basing on this evidence, clinical and diagnostic aspects of agenesias, hypogenesias, hypergenesia, dysgenesia, persistence and dystopias of the nose and intranasal structures are analyzed. Both severe and "minor" anomalies are considered. Endoscopic diagnosis of the malformations is described.
Subject(s)
Nose Deformities, Acquired/diagnosis , Nose/abnormalities , Paranasal Sinuses/abnormalities , Child , Ear, External/abnormalities , Endoscopy , Humans , Nose Deformities, Acquired/classification , Nose Deformities, Acquired/genetics , PedigreeABSTRACT
The detailed morphological description of 4 cases with cebocephaly, 3 of which were karotyped (one with D trisomy and 2 with normal karyotypes), are presented. Analysis of all cytogenetically studied cases with this malformation reveals that cebocephaly with a normal karyotype may result from more than one mutant gene, and so it may be accompanied by different extracranial abnormalities. On the other hand an absence of visceral malformations does not exclude chromosomal aberrations; thus 18p- syndrome, where cebocephaly is frequent, may have no visceral abnormalities.
Subject(s)
Abnormalities, Multiple , Brain/abnormalities , Nose Deformities, Acquired/genetics , Chromosome Aberrations , Chromosome Disorders , Chromosomes , Chromosomes, Human, 16-18 , Female , Humans , Infant, Newborn , Karyotyping , Male , SyndromeSubject(s)
Abnormalities, Multiple/genetics , Craniofacial Dysostosis/genetics , Hypertelorism/genetics , Nose Deformities, Acquired/genetics , Surgery, Plastic/methods , Abnormalities, Multiple/embryology , Abnormalities, Multiple/surgery , Child , Face/embryology , Female , Genetic Counseling , Humans , Hypertelorism/embryology , Hypertelorism/surgery , Nose Deformities, Acquired/embryology , Nose Deformities, Acquired/surgery , Rhinoplasty/methodsABSTRACT
Syndromes of human congenital malformation may be classified be recognizing communities of syndromes that share multiple phenotypic similarities involving their principal diagnostic features. A community of syndromes that shares various expressions of ectodermal dysplasia and various deformities of the hands and feet is proposed; these syndromes are divisible into two classes according to the presence or absence of anomalies in the nasal or labial regions of the face. The dysmorphogenetic validity of the division is supported by the fact that the syndromes without nasal or labial anomalies have a high frequency of sensorineural deafness as one expression of ectodermal dysplasia whereas those without such anomalies do not. The usefulness of such a syndromal community as a base for evolving a taxonomic scheme of dysmorphogenetic relatedness amongst different syndromes is illustrated.
Subject(s)
Abnormalities, Multiple/classification , Ectodermal Dysplasia/classification , Foot Deformities, Congenital , Hand Deformities, Congenital , Abnormalities, Multiple/genetics , Consanguinity , Deafness/genetics , Ectodermal Dysplasia/complications , Ectodermal Dysplasia/genetics , Ellis-Van Creveld Syndrome/classification , Face/abnormalities , Female , Genes , Humans , Male , Nose Deformities, Acquired/genetics , Phenotype , Syndactyly/complicationsABSTRACT
A pair of female mongoloid twins was studied when they were ten years old and, again, some thirty years later. A careful comparison was made of the similarities and differences between them in features or traits which have proved to be useful in determining the zygosity of like-sexed twins. Though some of these characters can be, and frequently are, considerably modified in the presence of mongolism and so lose part of their value for that purpose, the differences noted in these twins, both as children and as middle-aged adults, are thought to outweigh their similarities and so warrant the conclusion that they are, indeed, dizygotic.
