The following lists were developed from the syndromes delineated in Chapter 1 . Listed for each anomaly are the syndromes in which this defect is a frequent feature, as well as those syndromes in which it is an occasional feature.…
The following compilation of normal measurements is set forth as an aid in determining whether or not a given feature is abnormal. Such data may be especially useful when the visual impression is potentially misleading. For example, when the nasal…
Minor anomalies are herein defined as unusual morphologic features that are of no serious medical or cosmetic consequence to the patient. The value of their recognition is that they may serve as indicators of altered morphogenesis in a general sense…
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 affected by environmental factors in both prenatal and postnatal life.…
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 of a syndrome. VACTERL is an acronym that stands for…
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 arches, sometimes accompanied by vertebral anomalies, renal defects, or ocular…
Laterality Sequences In addition to reversal of the sides, with partial to complete situs inversus, there can be bilateral left- or right-sidedness. The primary defect in both is a failure of normal asymmetry in morphogenesis. The basic problem would presumably…
Coffin-Siris Syndrome Hypoplastic to Absent Fifth Finger and Toenails, Coarse Facies Coffin and Siris reported three patients with this disorder in 1970. Coffin-Siris syndrome (CSS) and Nicolaides Baraitser syndrome are the most recognizable BAFopathies. The causal genes affecting chromatin remodeling…
Fetal Alcohol Spectrum Disorders Prenatal Onset of Growth Deficiency, Microcephaly, Short Palpebral Fissures In 1968, Lemoine of Nantes, France, recognized the multiple effects that alcohol can have on the developing fetus. Lemoine’s report was not well accepted, and the disorder…
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 hypohidrotic ectodermal dysplasia (HED) and hidrotic categories based on the…