Oculo-Auriculo-Vertebral Spectrum (First and Second Branchial Arch Syndrome, Facio-Auriculo-Vertebral Spectrum, Hemifacial Microsomia, Goldenhar Syndrome) The predominant defects in this spectrum represent problems in morphogenesis of the first and second branchial…
Hypohidrotic Ectodermal Dysplasia Defect in Sweating, Alopecia, Hypodontia There are a number of ectodermal dysplasia (ED) syndromes, only a few of which are represented in this text. The division into…
The basic process of morphogenesis is genetically controlled. However, the ability of an individual to reach his or her genetic potential with respect to structure, growth, or cognitive development is…
Marfan Syndrome Arachnodactyly with Hyperextensibility, Lens Subluxation, Aortic Dilatation Described as dolichostenomelia in the initial report by Marfan, this disorder was extensively studied and recognized as an autosomal dominant connective…
Amyoplasia Congenita Disruptive Sequence Arms Extended with Flexion of Hands and Wrists, Shoulders Internally Rotated with Decreased Muscle Mass, Bilateral Equinovarus, Variable Contractures of Other Major Joints Initially described by…
Mucolipidosis II (Leroy I-Cell disease) Early Alveolar Ridge Hypertrophy, Joint Limitation, Thick Tight Skin in Early Infancy This disorder was recognized by Leroy and DeMars when they noted unusual cytoplasmic…
VACTERL Association An association is a term used to designate the nonrandom tendency of some malformations to occur together more commonly than would be expected by chance, without being components…
Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III) Brachycephaly with Maxillary Hypoplasia, Prominent Ear Crus, Syndactyly Originally described by Saethre and by Chotzen in the early 1930s, this disorder has an estimated prevalence…
Miller Syndrome (Genee-Wiedemann syndrome, Postaxial Acrofacial Dysostosis Syndrome) Treacher Collins–Like Facies; Limb Deficiency, Especially Postaxial In 1979, Miller and colleagues brought together six cases, four of which were from the…
Poland Sequence Unilateral Defect of Pectoralis Muscle, Syndactyly of Hand In 1841, Poland reported unilateral absence of the pectoralis minor and the sternal portion of the pectoralis major muscles in…
