Osteochondrodysplasias
Achondrogenesis Types IA and IB Low Nasal Bridge, Very Short Limbs, Incomplete Ossification of Lower Spine This early lethal disorder was described in 1925 by Donath and Vogl and termed…
PEDIATRICS
Miscellaneous Syndromes
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…
Other Skeletal Dysplasias
Multiple Synostosis Syndrome (Symphalangism Syndrome) Symphalangism, Hypoplasia of Alae Nasi In the past this disorder was generally termed symphalangism (synostosis of finger joints), a nonspecific anomaly. The multiple synostosis character…
Environmental Agents
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…
Normal Standards
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…
Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes
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…
Spectra of Defects
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…
Ectodermal Dysplasias
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…
Genetics, Genetic Counseling, and Prevention
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…
Connective Tissue Disorders
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…