PEDIATRICS

Osteochondrodysplasias

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Miscellaneous Syndromes

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Other Skeletal Dysplasias

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Environmental Agents

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Normal Standards

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Spectra of Defects

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Ectodermal Dysplasias

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Genetics, Genetic Counseling, and Prevention

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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Connective Tissue Disorders

Jun 28, 2021 by in PEDIATRICS Comments Off on 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…

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