Non Chromosomal Syndromes Associations and Sequences

A syndrome, association, sequence, or complex is a constellation of abnormal physical signs, each nonspecific in isolation but resulting in a mosaic that can be diagnosed with confidence. The pathogenic mechanisms involved are variable. The clinical presentation depends on the pathogenic mechanism and the time of occurrence. Approximately 2% of all newborn infants have a significant malformation which may be relatively simple or complex. The later the defect develops in gestation, the more simple the malformation. In 10% of these infants, a chromosomal abnormality can be detected. In approximately 20%, the malformations are based on a single gene defect, with autosomal dominant disorders predominating. Multifactorial inheritance accounts for 30% of neonates with malformations. A small percentage of malformations is seen in infants born to diabetic mothers or mothers who have received a known teratogenic drug. The remaining 35% of newborn infants have no identifiable cause for their malformations. In infants with malformations, 7.5% are associated with deformations (see Volume I, Chapter 5). Malformations and deformations may recur with a similar pattern. Disruptions tend to be sporadic and no two cases are exactly alike. Due to limitations of space, this section can demonstrate only some very characteristic findings; therefore the clinician should not consider these descriptions to be complete and should refer to other references as needed.

Macroglossia Infant

Figure 3.1. The top half of the figure shows macroglossia and a nevus flammeus; the lower portion shows an omphalocele; both in an infant with Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism [EMG] syndrome). It is usually sporadic and 60% of cases occur in females. Hemihypertro-phy occurs in 10 to 15% of the infants.

Nevus Flammeus Beckwith
Figure 3.2. Another example of an infant with the typical macrosomia (birthweight of 3950 g), polycythemia (hematocrit 66%) and hypoglycemia. Note the macroglossia, nevus flammeus over the glabellar region and the eyelids, and the prominent eyes with relative infraorbital hypoplasia.

Figure 3.1. The top half of the figure shows macroglossia and a nevus flammeus; the lower portion shows an omphalocele; both in an infant with Beckwith-Wiedemann syndrome (exomphalos-macroglossia-gigantism [EMG] syndrome). It is usually sporadic and 60% of cases occur in females. Hemihypertro-phy occurs in 10 to 15% of the infants.

Beckwith Wiedemann

Figure 3.3. This infant with Beckwith-Wiedemann syndrome shows the prominent occiput and typical transverse crease in the lobe of the ear.

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Infantile Cortical Hyperostosis Jaw

Figure 3.5. This 2-month-old infant with Caffey's syndrome (infantile cortical hyperostosis) shows the characteristic swelling of the jaw and right forearm. It usually occurs in a well-nourished infant. When the jaw is involved there is usually marked swelling of the face, mainly localized over the jaw. Most commonly this condition is diagnosed in the first few months of life, but congenital Caffey's syndrome has been reported.

Figure 3.4. Transverse creases of the lobes of the ears in an infant with Beckwith-Wiedemann syndrome.

Figure 3.5. This 2-month-old infant with Caffey's syndrome (infantile cortical hyperostosis) shows the characteristic swelling of the jaw and right forearm. It usually occurs in a well-nourished infant. When the jaw is involved there is usually marked swelling of the face, mainly localized over the jaw. Most commonly this condition is diagnosed in the first few months of life, but congenital Caffey's syndrome has been reported.

Figure 3.6. The same infant with Caffey's syndrome. Note that the left arm is normal but the right forearm is swollen and tender.

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Responses

  • Aman
    What is nevus flammeus over glabella?
    6 years ago
  • Medardo
    What is eunuchoidal infantile giantism?
    6 years ago

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